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  • Composite Epstein-Barr virus-positive mucosa-associated lymphoid tissue lymphoma and Epstein-Barr virus-negative diffuse large B-cell lymphoma in the parotid salivary gland of a patient with Sjögren’s syndrome and rheumatoid arthritis: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2020-01-17
    Vadim R. Gorodetskiy; Natalya A. Probatova; Dmitry M. Konovalov; Natalya V. Ryzhikova; Yulia V. Sidorova; Andrey B. Sudarikov; Olga V. Mukhortova

    Epstein-Barr virus is associated with many human hematopoietic neoplasms; however, Epstein-Barr virus-positive mucosa-associated lymphoid tissue lymphoma is extremely rare. In routine clinical practice, detection of mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma in a tissue sample presumes a clonal relation between these neoplasms and that diffuse large B-cell lymphoma developed by transformation of the mucosa-associated lymphoid tissue lymphoma. However, evidence to support this presumption is sparse and controversial. Assessment of the clonal relationship of the lymphoid components of a composite lymphoma is important for understanding its pathogenesis and correct diagnosis. We present an unusual case of composite lymphoma (Epstein-Barr virus-positive mucosa-associated lymphoid tissue lymphoma/Epstein-Barr virus-negative diffuse large B-cell lymphoma) in the parotid salivary gland of a 62-year-old Caucasian woman with Sjögren’s syndrome and rheumatoid arthritis. Simultaneous occurrence of mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma in the parotid salivary gland led us to initially assume a clonal relationship between diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma. Epstein-Barr virus was detected by in situ hybridization and polymerase chain reaction in the mucosa-associated lymphoid tissue lymphoma, but not in diffuse large B-cell lymphoma, suggesting that these lymphomas were not clonally related. Fragment analysis of frame region 3 polymerase chain reaction products from microdissected mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma components revealed different clonal pattern rearrangements of the immunoglobulin heavy chain gene. Our patient’s case highlights the importance of assessing the clonal relationships of the lymphoid components of a composite lymphoma and Epstein-Barr virus screening in mucosa-associated lymphoid tissue lymphoma in patients with autoimmune disease.

    更新日期:2020-01-17
  • Calcification and abscess formation around the catheter tip of a central venous access port: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2020-01-16
    Tomoya Takami; Keisuke Fukuda; Koji Yasuda; Nozomi Kasyu; Hiroyuki Yoshitake; Kotaro Hatano; Naoki Kataoka; Tomoyuki Yamaguchi; Masafumi Tomita; Yoshiharu Shono; Shinichiro Makimoto

    Thrombosis of the internal jugular vein occasionally occurs in association with long-term placement of a central venous catheter; however, such complications rarely involve calcification within the blood vessels. We report a case of calcification and abscess formation around a central venous catheter tip. Our patient was an 84-year-old Asian woman who developed a fever that had started approximately 5 months after the placement of a central venous catheter. At the time of presentation, blood tests showed a marked inflammatory response, and chest computed tomography showed a high absorption area and air density around the catheter tip. Therefore, the patient was diagnosed with abnormal intravascular calcification and a deep neck abscess associated with long-term central venous catheter placement. The initial plan was to administer antibiotics and remove the central venous catheter. However, central venous catheter removal was deemed difficult due to the calcification and therefore required an incision. Because of the patient’s advanced age and dementia, her family requested antibiotic treatment only. Following antibiotic treatment, the patient’s inflammatory response normalized, and her fever resolved. The treatment was discontinued, and the patient’s condition gradually stabilized. Catheter-related complications of central venous catheter placement include vascular occlusion, extravasation of the infusion, and infection. However, abnormal calcification in the blood vessels is extremely rare, and there has been only one case report of a neonate with central venous catheter-related vascular calcification in Japan. The etiology of intravascular calcification is considered to be related to the infusion content and the infusion rate of high caloric infusions and blood products. The incidence of complications associated with long-term central venous catheter placement is expected to increase with the increasing aging of the population and advances in chemotherapy. The report of the clinical course of this rare case adds to the body of knowledge in this area.

    更新日期:2020-01-16
  • A rare association between true thymic hyperplasia and thyroid follicular tumor: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2020-01-15
    Takumi Kiwaki; Hiroyuki Tanaka; Yutaka Akiyama; Mayumi Akaki; Masaki Tomita; Hiroaki Kataoka

    True thymic hyperplasia is a rare condition characterized by enlargement of the thymus while its normal structure is retained. True thymic hyperplasia is known to accompany Graves’ disease, but no association between true thymic hyperplasia and thyroid follicular tumor has been reported so far. We report a case of true thymic hyperplasia in a patient with a thyroid follicular tumor. A 52-year-old Japanese man was referred to our hospital for evaluation of a thyroid mass and a mediastinal mass. His serum thyroglobulin level was high, and hemithyroidectomy was performed to remove the thyroid mass. The resected mass was diagnosed as a follicular tumor of uncertain malignant potential. After resection of the thyroid lesion, the patient’s serum thyroglobulin levels were markedly decreased. Seven months later, the patient underwent resection of the mediastinal mass. On pathological examination, the mass was found to consist of lobules, which formed a corticomedullary structure with Hassall’s bodies, indicating a normal thymic mass with hyperplastic thymic tissue, less organized cellular cords, and intermingled adipose tissue. Immunostaining for cytokeratin 19 and cytokeratin 7 indicated that the lesion was consistent with thymic tissue. The lesion was diagnosed as true thymic hyperplasia, and the histological findings suggested that secondary atrophy had occurred. No evidence of recurrence was observed at 24 months after surgery. We present a case of a combination of true thymic hyperplasia and thyroidal follicular tumors that, to our knowledge, has not been reported previously. High serum thyroglobulin levels might play a role in hyperplasia of the thymus. Although true thymic hyperplasia is a rare disorder, it should be included in the differential diagnosis of a mediastinal mass in patients with thyroid disease.

    更新日期:2020-01-15
  • Hemiarthroplasty in a patient with femoral neck fracture and pyoderma gangrenosum: a case report and review of the literature
    J. Med. Case Rep. (IF 0) Pub Date : 2020-01-14
    Anna Antoni; Franz Trautinger; Thomas Heinz; Stefan Hajdu

    Pyoderma gangrenosum is a rare ulcerating skin disease of unknown etiology, making its coincidence with orthopedic trauma a rare challenge. Patients are at risk of progression of the existing lesions and development of new lesions upon skin injury when surgical procedures are performed. To our knowledge, this is the first report in the literature of disease unrelated surgery during active pyoderma gangrenosum. We present a case of femoral neck fracture in a Caucasian patient with concurrent pyoderma gangrenosum localized in the axilla. Hemiarthroplasty was safely performed after disease activity was reduced with systemic corticosteroids. Tissue-protective wound closure was used together with perioperative corticosteroids and antibiotics. No signs of pyoderma gangrenosum developed at the surgical wound site, and the axillary lesions showed constant improvement until healing with scar tissue. In our patient, the preoperative steroid treatment, perioperative antibiotics, and soft tissue protective surgical technique led to successful management of this rare coincidence.

    更新日期:2020-01-14
  • Occurrence of abscesses during treatment with pazopanib in metastatic renal cancer: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2020-01-11
    Ivana Puliafito; Alessio Russo; Dorotea Sciacca; Caterina Puglisi; Dario Giuffrida

    Pazopanib is a multitarget tyrosine kinase inhibitor used in the treatment of renal cancer and soft tissue sarcoma. Its use is commonly associated with a number of side effects, such as hemorrhagic diathesis, neutropenia, leukopenia, thrombocytopenia, nausea, vomiting, abdominal pain, increased serum aspartate aminotransferase, increased serum alanine aminotransferase, decreased serum glucose, increased serum bilirubin, decreased serum phosphate and magnesium, fatigue, hypertension, diarrhea, anorexia, proteinuria, and hypothyroidism. Abscesses of metastases caused by pazopanib administration are rarely reported in the literature. We report a case of abscesses of lung metastases related to pazopanib in a patient with metastatic renal cancer. The patient was a 53-year-old Caucasian man who developed abscesses of lung metastases during the first 3 months of treatment with pazopanib. The abscesses resolved after 1 month by stopping pazopanib and administering adequate antibiotic therapy. We conclude that abscesses of metastases could be a rare side effect occurring during treatment with pazopanib in patients with renal cancer.

    更新日期:2020-01-13
  • Atypical hemolytic uremic syndrome: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2020-01-13
    B. M. D. B. Basnayake; A. W. M. Wazil; N. Nanayakkara; S. M. D. K. Samarakoon; E. M. S. K. Senavirathne; B. U. E. W. D. R. Thangarajah; N. Karunasena; R. M. B. S. S. Mahanama

    Thrombotic microangiopathy is a pathological condition comprised of microvascular thrombosis involving any organ of the body leading to thrombocytopenia, Coombs-negative hemolytic anemia, and end-organ damage. The most common forms of thrombotic microangiopathies are Shiga toxin-producing Escherichia coli-mediated hemolytic uremic syndrome, thrombotic thrombocytopenic purpura, and atypical hemolytic uremic syndrome. The atypical hemolytic uremic syndrome occurs due to genetic and acquired mutations in complement regulatory factors and to complement activation factors in the immune system, mainly the alternative pathway. Clinical manifestations and outcomes differ with the prevalent mutations of the patient. Currently, available treatment modalities are therapeutic plasma exchange and a monoclonal antibody against C5, eculizumab. We report a case of a Sri Lankan girl diagnosed with atypical hemolytic uremic syndrome complicated with septicemia, hemolytic anemia, acute kidney injury, pulmonary hemorrhage with respiratory failure, and hypertension who had a complete remission following long-term (30 months) therapeutic plasma exchange. A 15-year-old Sri Lankan girl was transferred from a local hospital with the features of septicemia and acute kidney injury for specialized management. She had high blood pressure (180/100 mmHg) on admission. She underwent appendicectomy based on suspicion of acute appendicitis as the cause of sepsis. Following surgery, her condition deteriorated, and intensive care unit management was warranted because she developed pulmonary hemorrhages and respiratory failure requiring mechanical ventilation and renal replacement therapy in the form of hemodialysis. Her blood investigations showed microangiopathic hemolytic anemia, thrombocytopenia, elevated lactate dehydrogenase, and reduced human complement C3 levels, together with a normal coagulation profile. She was diagnosed with atypical hemolytic uremic syndrome and was initiated on therapeutic plasma exchange and other supportive therapy, including corticosteroids. Following a lengthy course of plasma exchange, complete recovery was achieved. The atypical hemolytic uremic syndrome is a rare disease entity requiring a high index of suspicion to diagnose. It is a diagnosis of exclusion. Early diagnosis with prompt treatment will render a better outcome. The atypical hemolytic uremic syndrome needs to be considered in all patients with thrombotic microangiopathy.

    更新日期:2020-01-13
  • Hydatid cyst of the foot: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2020-01-10
    Biniam Ewnte

    Hydatid cyst is rarely located in soft tissues. This case of a hydatid cyst over the plantar surface of our patient’s foot is one of the rarest presentations. This is a case report of a 22-year-old Somali who presented with a lump over the plantar surface of his foot of 1-year duration. The diagnosis of hydatid cyst was made intraoperatively from the typical appearance of a hydatid cyst. The cyst was completely excised. No local recurrence has been detected to date. The rare location and uncommon incidence made the initial diagnosis of hydatid cyst of the foot difficult. Detection of the typical germinal membrane can guide the diagnosis of hydatid cyst in rare locations that are found incidentally.

    更新日期:2020-01-11
  • The Landscape Montage Technique for diagnosing frontotemporal dementia starting as primary progressive aphasia: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2020-01-09
    Masahiko Takaya; Kazunari Ishii; Isao Kubota; Osamu Shirakawa

    The Landscape Montage Technique was originally developed by Hisao Nakai, a Japanese psychiatrist, to pursue the possibility and application of a psychotherapeutic approach using drawing for patients with schizophrenia. Drawing was initially adopted to evaluate patients with an impaired ability for verbal expression, particularly for the diagnosis and treatment of patients with schizophrenia. Since its development, the Landscape Montage Technique has been utilized in various clinical settings throughout Japan. This study aimed to evaluate the psychiatric conditions of a patient diagnosed as having primary progressive aphasia using the Landscape Montage Technique at a 3-year follow-up. We present the case of a 64-year-old, right-handed Japanese woman initially diagnosed as having logopenic variant primary progressive aphasia or logopenic aphasia. At a 3-year follow-up, logopenic aphasia progressed to behavioral variant frontotemporal dementia or frontotemporal dementia. According to her husband, she began to have speech difficulties approximately 5 years before her first visit. The results of neurocognitive tests suggested mild cognitive impairment or early stages of dementia. Her clinical dementia rating score was 0.5, suggesting a diagnosis of mild cognitive impairment. She had a Raven’s Colored Progressive Matrices score of 31 out of 36, which indicated a nonverbal cognitive ability that was greater than the 90th percentile for her age. The Japanese Standard Language Test of Aphasia, which was performed at two points during the follow-up, indicated the possibility for a diagnosis of primary progressive aphasia given the progression of her aphasia. Based on her clinical symptoms and Japanese Standard Language Test of Aphasia results, a diagnosis of logopenic variant primary progressive aphasia was established. Magnetic resonance imaging revealed severe predominant left frontal and anterior temporal atrophy, as well as bilateral parietal atrophy. Amyloid beta deposition was negative. At the 3-year follow-up, logopenic variant primary progressive aphasia had progressed to behavioral variant frontotemporal dementia. However, the Landscape Montage Technique allowed for the diagnosis of behavioral variant frontotemporal dementia only 2 years after baseline. The present study showed that the Landscape Montage Technique can be useful for diagnosing behavioral variant frontotemporal dementia that starts as logopenic variant primary progressive aphasia at earlier stages.

    更新日期:2020-01-09
  • Clear cell renal carcinoma synchronous with dedifferentiated liposarcoma: a case report and review of the literature
    J. Med. Case Rep. (IF 0) Pub Date : 2020-01-08
    Estefania Beltran; Juan Esteban Garcia-Robledo; Lisa X. Rodríguez-Rojas; Martin Rengifo; Bladimir Perez; Harry Pachajoa; Angela R. Zambrano

    Multiple primary malignant neoplasms are not frequent but are increasing in incidence. Some of them are associated with genetic syndromes such as von Hippel-Lindau syndrome and Li-Fraumeni syndrome. Dedifferentiated liposarcoma is one of the rarest soft tissue tumors, and clear cell renal carcinoma is the most frequent kidney cancer. The concomitant presence of these tumors is extremely rare; however, some cases have been reported, none of them presenting with liposarcoma of the limbs. We report an interesting case of a patient with synchronous multiple primary tumors presenting with a very rare liposarcoma associated with renal cell carcinoma (a very rare association). A review of the literature and a collection of similar cases published previously are also provided. We report a case of a 62-year-old Hispanic man who presented to our institution with a left thigh mass compatible with dedifferentiated liposarcoma synchronous with metastatic clear cell renal carcinoma. Multiple treatment lines were provided with no response, with a further metastatic transformation. Genetic analysis by liquid biopsy showed some mutations that were not susceptible to targeted therapy. At the time of this report, the patient is undergoing palliative care because his nonresponsive metastatic disease persists. We present the first reported case of clear cell renal carcinoma synchronous with dedifferentiated liposarcoma of a limb. The association between renal cell carcinoma and dedifferentiated liposarcoma is unusual, and there are few reports of this presentation in the literature. More research about these tumors along with genetic tests needs to be performed to seek a better understanding of the fundamental basis of this rare association.

    更新日期:2020-01-08
  • Iatrogenic endometriosis following apical pelvic organ prolapse surgery: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2020-01-05
    Alkan Cubuk; Orkunt Ozkaptan; Jörg Neymeyer

    Iatrogenic endometriosis is the presence of endometrial glands and stroma out of the uterus following certain surgical interventions. The rate of iatrogenic endometriosis after gynecologic surgeries due to benign uterine disease is 1–2%. Laparoscopic supracervical hysterectomy is also a part of frequently used surgical treatment of apical pelvic organ prolapse, which is followed by sacrocervicopexy. However, there are no data about iatrogenic endometriosis after apical prolapse surgery in the current literature. Herein, we present a case report of a patient diagnosed with de novo endometriosis 1 year after laparoscopic supracervical hysterectomy and sacrocervicopexy. A 46-year-old parous Slavic woman who underwent laparoscopic supracervical hysterectomy and sacrocervicopexy secondary to grade 3 symptomatic apical prolapse 1 year earlier was admitted to the same clinic with pelvic pain that had started 6 months following surgery. Deep vaginal palpation was painful. Transvaginal ultrasonography revealed an area with hypervascularization on the sacral promontory. She was scheduled for diagnostic laparoscopy. A 2 × 2-cm solid, wine-colored, hypervascular hemorrhagic lesion was seen on the sacral promontory. The lesion and the peritoneal layer behind it were totally excised. The patient was discharged on the first postoperative day, without any complications. Pathologic examination revealed foci of endometriosis comprising endometrial glands and stroma within the connective tissue, along with hemosiderin-laden macrophages. The symptoms of the patient resolved after the surgery, and no further adjuvant treatment was needed. Although the rate of iatrogenic endometriosis is low after laparoscopic supracervical hysterectomy and sacrocervicopexy, the possibility of the occurrence of iatrogenic endometriosis should be discussed with patients who are diagnosed with apical prolapse to determine the type of surgical intervention. Iatrogenic endometriosis should be kept in mind for differential diagnosis in case of pain after laparoscopic supracervical hysterectomy and sacrocervicopexy.

    更新日期:2020-01-06
  • Malfunctioning sufentanil intrathecal pain pump: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2020-01-03
    Lindsay Warner; Anna Branstad; Lindsay Hunter Guevara; Laura Matzke Bitterman; Matthew Pingree; Wayne Nicholson; Jason Eldrige

    Sufentanil is a potent opioid uncommonly used to manage pain and is rarely administered via an intrathecal pain pump system. This case illustrates the use of intrathecal sufentanil in a 50-year-old Caucasian man for the management of chronic pain; however, the intrathecal drug delivery system experienced a malfunction which led to 1/100th output of the correct dosage. Interesting aspects of this case report include the uncommon choice of sufentanil use for an intrathecal drug delivery system, as well as the unusual pharmacokinetics of this drug. Specifically, this patient did not experience the major withdrawal that would be expected given significant under dosing of opioid, and this may be explained by the lipophilicity and context-sensitive half-times of sufentanil. Because of the absence of a clinically significant withdrawal in this case report, clinicians must be aware of relevant pharmacokinetic properties and unusual intrathecal drug delivery system technologies that influence a patient’s response when device malfunction occurs.

    更新日期:2020-01-04
  • Laryngeal polyp associated with reflux disease: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2020-01-04
    Wael Abdo Hassan

    Among the most common benign laryngeal lesions are vocal nodules and polyps. Their etiology is related to vocal abuse. Gastroesophageal reflux disease is a common condition presenting with a broad spectrum of symptoms, among which are extraesophageal manifestations such as laryngeal polyps. A 24-year-old Middle Eastern woman presented to the author’s institution with dysphonia and dyspepsia. She underwent endoscopy and was diagnosed with severe reflux disease. In addition, laryngoscopy revealed a polyp at the left vocal cord, and the patient underwent polypectomy. Histopathological examination revealed a laryngeal polyp of telangiectatic type characterized by hyperplastic epithelial covering with reactive atypia, prominent superficial acanthosis with neutrophils, and prominent chronic inflammation and thrombosed vessels in the stroma. This report focuses on the pathological findings associated with a laryngeal polyp in a young patient diagnosed with severe reflux disease. Acknowledging such characteristic changes in a laryngeal polyp could aid in the diagnosis of gastroesophageal reflux disease.

    更新日期:2020-01-04
  • Infective myositis, an uncommon presentation of melioidosis: a case report and review of the literature
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-31
    Nuwan Jayawardena; Udaya Ralapanawa; Prabhashini Kumarihamy; Thilak Jayalath; Shashi Prabhani Abeygunawardana; Nadisha Dissanayake; Priyantha Dissanayake; Jeevani Udupihille; Neelakanthi Ratnatunga; Chamara Dalugama

    Melioidosis is considered endemic in certain areas of the world. Musculoskeletal and soft tissue involvement are relatively uncommon presentations in melioidosis. We present a case of infective myositis in a patient with melioidosis in Sri Lanka, which is not considered an endemic country. Even though multiple cases of melioidosis have been reported with an increasing number in Sri Lanka, infective myositis secondary to melioidosis was not reported previously. A 60-year-old Sinhalese man with diabetes presented with fever of 4 months’ duration and a limp with a painful lump on the right side of the upper thigh of 2 months’ duration. He had been treated in a local hospital for community-acquired pneumonia 3 weeks prior to this admission, for which he had received intravenous meropenem and teicoplanin with intensive care unit admission. He had a 0.5-cm × 0.5-cm tender lump over the right vastus lateralis muscle, and contrast-enhanced computed tomography of the area showed an ill-defined, heterogeneously enhancing, hypodense area involving the vastus lateralis, vastus intermedius, and quadratus femoris, suggestive of infective myositis but without abscess formation. Histopathology of the muscle biopsied from the vastus lateralis showed suppurative inflammation of subcutaneous fat with connective tissue necrosis and muscle infiltrated by lymphocytes. These features are suggestive of infective myositis possibly due to melioidosis. Although the result of a culture taken from the muscle biopsy was negative, the patient’s antibody titer was strongly positive for melioidosis. He did not show any other areas with infected foci. He was treated with intravenous meropenem for 2 weeks and responded well. He was discharged with trimethoprim-sulfamethoxazole for 6 months as a maintenance therapy. Melioidosis is commonly an undiagnosed disease that has a wide variety of clinical presentations. Myositis in melioidosis is uncommon, and careful evaluation is mandatory to avoid misdiagnosis of this treatable but fatal disease. The clinician should have a high index of clinical suspicion, and further clinical and epidemiological studies are needed to determine the true burden of the disease.

    更新日期:2019-12-31
  • Activating BRAF mutation in sclerosing mucoepidermoid carcinoma with eosinophilia of the thyroid gland: two case reports and review of the literature
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-28
    Jasmine S. Sukumar; Senthil Sukumar; Darshana Purohit; Brian J. Welch; Jyoti Balani; Shirley Yan; Sumitha S. Hathiramani

    Sclerosing mucoepidermoid carcinoma with eosinophilia is a rare form of thyroid carcinoma. The underlying molecular mechanisms of sclerosing mucoepidermoid carcinoma with eosinophilia tumorigenesis remain unknown. We present two cases of sclerosing mucoepidermoid carcinoma with eosinophilia, both with a concurrent papillary thyroid carcinoma. Patient 1, a 70-year-old Caucasian woman, presented with sclerosing mucoepidermoid carcinoma with eosinophilia with distant renal metastasis and coexisting papillary thyroid carcinoma. Patient 2, a 74-year-old Caucasian woman with a remote history of thyroid cancer treated with thyroidectomy, presented with locoregionally invasive sclerosing mucoepidermoid carcinoma with eosinophilia and recurrent papillary thyroid carcinoma in the thyroid bed. BRAF mutation studies were performed on the sclerosing mucoepidermoid carcinoma with eosinophilia tumors. In both cases, sclerosing mucoepidermoid carcinoma with eosinophilia was positive for the BRAF V600E mutation by polymerase chain reaction. Patient 1 is the first reported case of sclerosing mucoepidermoid carcinoma with eosinophilia with renal metastasis, to the best of our knowledge. Our findings suggest, for the first time, to our knowledge, involvement of the RAS-RAF-MEK-ERK signaling pathway in the pathogenesis of sclerosing mucoepidermoid carcinoma with eosinophilia. Thus, BRAF inhibitors may prove to be a useful targeted medical therapy in the treatment of a subset of patients with aggressive sclerosing mucoepidermoid carcinoma with eosinophilia tumors who exhibit BRAF activating mutation.

    更新日期:2019-12-30
  • One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-29
    Renata Yakubov; Asaly Ayman; Adi Klein Kremer; Machiel van den Akker

    It is not uncommon that an infant with a disease of unknown etiology is presented to a physician. Facial dysmorphic features lead to a different diagnosis. It is a challenge to link the presentation to the newfound diagnosis. A 37-day-old Yemenite Jewish girl was presented to our institution with a clinical picture of pseudohypoaldosteronism due to abnormal facial features and a psychomotor developmental delay. Further investigation led to the diagnosis of CDK13-related disorder. According to the literature, CDK13 has a key role in the cell cycle, but no interference with the aldosterone signaling pathway or electrolyte balance was described. No mutations in the previously described gene NR3C2 (cytogenetic location 4q31.23), encoding the mineralocorticoid receptor, were found. Although the clinical presentation corresponded to pseudohypoaldosteronism type 1, we could not genetically confirm this. Probably pseudohypoaldosteronism was a coincidental finding in this girl with a CDK13 mutation, but because only limited information is known about CDK13-related disorders, further investigation could be more informative to clarify this presentation.

    更新日期:2019-12-30
  • Pseudo-Wellens syndrome, acute pancreatitis, and an anomalous coronary artery: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-30
    V. S. Effoe; W. O’Neal; R. Santos; L. Rubinsztain; A. M. Zafari

    Chest pain associated with transient electrocardiogram changes mimicking an acute myocardial infarction have been described in acute pancreatitis. These ischemic electrocardiogram changes can present a diagnostic dilemma, especially when patients present with concurrent angina pectoris and epigastric pain warranting noninvasive or invasive imaging studies. A 45-year-old African-American man with a history of alcohol use disorder presented to the emergency department of our institution with 36 hours of concurrent epigastric pain and left-sided chest pain radiating to his left arm and associated with nausea and dyspnea. On physical examination, he was afebrile; his blood pressure was elevated; and he had epigastric tenderness. His laboratory test results were significant for hypokalemia, normal troponin, and elevated serum lipase and amylase levels. Serial electrocardiograms for persistent chest pain showed ST-segment elevations with dynamic T-wave changes in the right precordial electrocardiogram leads, consistent with Wellens syndrome. He was immediately taken to the cardiac catheterization laboratory, where selective coronary angiography showed normal coronary arteries with an anomalous origin of the right coronary artery from the opposite sinus. Given his elevated lipase and amylase levels, the patient was treated for acute alcohol-induced pancreatitis with intravenous fluids and pain control. His chest pain and ischemic electrocardiogram changes resolved within 24 hours of admission, and coronary computed tomography angiography showed an interarterial course of the right coronary artery without high-risk features. Clinicians may consider deferring immediate cardiac catheterization and attribute electrocardiogram changes to acute pancreatitis in patients presenting with angina pectoris and acute pancreatitis if confirmed by normal cardiac enzymes and elevated levels of lipase and amylase. However, when clinical signs and electrocardiogram findings are highly suggestive of myocardial ischemia/injury, immediate noninvasive coronary computed tomography angiography may be the best approach to make an early diagnosis.

    更新日期:2019-12-30
  • Gallbladder hemorrhage during orally administered edoxaban therapy: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-26
    Hideya Itagaki; Suzuki Katuhiko

    Edoxaban is an orally administered anticoagulant treatment that is used in patients with cerebral infarction, venous thrombosis, or other conditions, with a reported incidence of gastrointestinal hemorrhage at approximately 1%. We encountered the rare case of a patient who developed a gallbladder hemorrhage after the administration of edoxaban. An 86-year-old Japanese woman visited our gastrointestinal department due to the chief complaint of melena lasting for a week. Her medical history included hypertension and embolic cerebral infarction, and she was taking orally administered carvedilol (5 mg/day) and edoxaban (30 mg/day). Her palpebral conjunctiva was pale during a physical examination, indicating the possibility of anemia. Her blood test results confirmed severe anemia with red blood cells at 1.7 × 106/μL and hemoglobin at 4.7 g/dL. An upper gastrointestinal endoscopy revealed bile and fresh blood on the duodenal bulb and in more distal regions; hemobilia was suspected. A computed tomography scan on the ninth hospitalization day confirmed the hemobilia with a gallbladder fundus high-density signal. She was discharged on the 30th day of hospitalization with only fluid therapy and no progression of anemia. Moreover, she underwent a laparoscopic cholecystectomy 1 month after discharge, but the pathologist did not identify false aneurysms or neoplastic lesions. She has not been shown to develop anemia for 5 months after surgery. Our case suggests that gallbladder hemorrhage needs to be considered a possible complication for patients on direct oral anticoagulants.

    更新日期:2019-12-27
  • Successful thrombolytic therapy with recombinant tissue plasminogen activator in ischemic stroke after idarucizumab administration for reversal of dabigatran: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-26
    Toshiyuki Ohtani; Ryosuke Sintoku; Tasuku Yajima; Naoyuki Kaneko

    Idarucizumab is a specific antidote for the anticoagulant dabigatran. Although its efficacy has been recently reported, the drug is still in postmarketing surveillance and requires case data in different emergency settings. A newer intravenous thrombolytic therapy with recombinant tissue plasminogen activator has been proposed after injection of idarucizumab in patients receiving dabigatran; however, the safety and efficacy of this therapy are equivocal because of the limited number of reported cases. We describe a case of a patient with acute lacunar stroke causing dysarthria and hemiparesis successfully treated with intravenous thrombolytic therapy with recombinant tissue plasminogen activator after reversal of dabigatran with idarucizumab. A 67-year-old Asian woman was transferred to our emergency center 200 minutes after sudden onset of dysarthria and right-sided hemiparesis. She had been taking dabigatran for prevention of stroke recurrence caused by atrial fibrillation. Diffusion-weighted magnetic resonance imaging revealed a new lacunar infarction near old putamen infarctions. We treated her with intravenous thrombolytic therapy with recombinant tissue plasminogen activator after administering idarucizumab. The time to recombinant tissue plasminogen activator administration was 5 minutes from idarucizumab injection and 269 minutes from symptom onset. The patient’s activated partial thromboplastin times were 68.0 and 43.2 seconds before and after the therapy, respectively. The patient’s neurological symptoms improved significantly after the treatment, and she experienced no adverse events. Intravenous thrombolytic therapy with recombinant tissue plasminogen activator after reversal of dabigatran with idarucizumab may be safe and feasible in patients with acute ischemic stroke with lacunar infarct. Furthermore, intravenous thrombolytic therapy with recombinant tissue plasminogen activator could be used in patients in emergency settings until just before the end of the recommended time limit within which it needs to be administered because of the immediate effect of idarucizumab.

    更新日期:2019-12-27
  • Polyneuropathy, organomegaly, endocrinopathy, monoclonal band, and skin (POEMS) changes syndrome presenting with a pseudosensory level: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-27
    Shiran Paranavitane; Lallindra Gooneratne; Thashi Chang

    Polyneuropathy is a key feature of polyneuropathy, organomegaly, endocrinopathy, monoclonal band, and skin changes syndrome, which is a paraneoplastic manifestation of an underlying lymphoproliferative neoplasm. We report the first case of polyneuropathy, organomegaly, endocrinopathy, monoclonal band, and skin changes syndrome presenting with a pseudosensory level. A 59-year-old Tamil woman with long-standing diabetes mellitus and hypertension developed painless, progressive inguinal lymphadenopathy. A contrast-enhanced computed tomography scan showed mild hepatomegaly and intra-abdominal lymphadenopathy. A histological examination of an enlarged inguinal lymph node showed features of a plasma cell-type Castleman disease. She was treated with rituximab. Six months later, she developed gradually ascending numbness and weakness of both lower limbs. On examination, she had flaccid paraparesis (power 3/5) with a sensory level to pinprick at thoracic level 9. Joint position sense was preserved. Her cranial nerves and upper limbs were neurologically normal. Nerve conduction studies confirmed peripheral neuropathy with conduction slowing and a magnetic resonance imaging of her spine did not show cord or root compression. Serum protein electrophoresis showed a monoclonal band. A bone marrow biopsy showed a hypercellular marrow with 30% plasma cells. A repeat contrast-enhanced computed tomography scan showed sclerotic bony lesions involving multiple vertebrae in addition to mild hepatomegaly and intra-abdominal lymphadenopathy. Polyneuropathy, organomegaly, endocrinopathy, monoclonal band, and skin changes syndrome was diagnosed and she was treated with intravenously administered pulse therapy of dexamethasone and cyclophosphamide. After three cycles of treatment, she regained normal muscle power and sensation. Polyneuropathy in polyneuropathy, organomegaly, endocrinopathy, monoclonal band, and skin changes syndrome can present as a pseudosensory level.

    更新日期:2019-12-27
  • Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous sclerosis complex: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-24
    Kenji Gonda; Takanori Akama; Takayuki Nakamura; Eiko Hashimoto; Naomi Kyoya; Yuichi Rokkaku; Yuko Maejima; Shoichiro Horita; Kazunoshin Tachibana; Noriko Abe; Tohru Ohtake; Kenju Shimomura; Koji Kono; Shigehira Saji; Seiichi Takenoshita; Eiji Higashihara

    Autosomal dominant polycystic kidney disease is defined as an inherited disorder characterized by renal cyst formation due to mutations in the PKD1 or PKD2 gene, whereas tuberous sclerosis complex is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of the TSC2 gene. A TSC2/PKD1 contiguous gene syndrome, which is caused by a chromosomal mutation that disrupts both the TSC2 and PKD1 genes, has been identified in patients with tuberous sclerosis complex and severe early-onset autosomal dominant polycystic kidney disease. The tumor tissue of patients with breast cancer with contiguous gene syndrome has a high mutation burden and produces several neoantigens. A diffuse positive immunohistochemistry staining for cluster of differentiation 8+ in the T cells of breast cancer tissue is consistent with neoantigen production due to high mutation burden. A 61-year-old Japanese woman who had been undergoing dialysis for 23 years because of end-stage renal failure secondary to autosomal dominant polycystic kidney disease was diagnosed as having triple-negative breast cancer and underwent mastectomy in 2015. She had a history of epilepsy and skin hamartoma. Her grandmother, mother, two aunts, four cousins, and one brother were also on dialysis for autosomal dominant polycystic kidney disease. Her brother had epilepsy and a brain nodule. Another brother had a syndrome of kidney failure, intellectual disability, and diabetes mellitus, which seemed to be caused by mutation in the CREBBP gene. Immunohistochemistry of our patient’s breast tissue showed cluster of differentiation 8 and programmed cell death ligand 1 positivity. Programmed cell death ligand 1 checkpoint therapy may be effective for recurrence of triple-negative breast cancer in a patient with autosomal dominant polycystic kidney disease and tuberous sclerosis complex.

    更新日期:2019-12-25
  • Avulsion fracture of the medial head of the gastrocnemius muscle associated with multiple ligament injuries before closure of the growth plate: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-25
    Masataka Hirotsu; Hironori Kakoi; Noboru Taniguchi

    Avulsion fracture of the medial head of the gastrocnemius muscle is a very rare phenomenon. There are no reports of avulsion fractures associated with multiple ligament injuries before closure of the growth plate. The authors present a case of avulsion fracture of the insertion of the medial head of the gastrocnemius muscle associated with posterior cruciate ligament injury and an avulsion fracture of the medial collateral ligament at the femoral attachment. A 15-year-old Japanese boy was injured by contact with another player while playing soccer. He was immediately admitted to the authors’ hospital with knee pain. Radiography and computed tomography revealed an avulsion fracture of the medial collateral ligament at the femoral attachment and an avulsion fracture of the medial head of the gastrocnemius muscle. In examination under anesthesia, the Lachman test was negative and posterior drawer test was positive. Fixation of the avulsion fractures of the medial collateral ligament and medial head of the gastrocnemius was performed 9 days after the injury. After fixation, valgus instability at full extension had disappeared. The knee was immobilized in a brace for 2 weeks postoperatively. One year postoperatively, the posterior drawer test was slightly positive; however, our patient was able to ambulate without pain and returned to sports without feeling instability in his knee. A rare case of avulsion fracture of the gastrocnemius muscle combined with multiple ligament injuries before closure of the growth plate is described. A satisfactory result was obtained by fixation of the avulsed bone fragments of the gastrocnemius muscle and medial collateral ligament. The authors believe that avulsion fracture of the medial head of the gastrocnemius muscle associated with posterior cruciate ligament injury should be repaired.

    更新日期:2019-12-25
  • Somatic PRKAR1A mutation in sporadic atrial myxoma with cerebral parenchymal metastases: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-25
    Ashley Roque; Tara Kimbrough; Christopher Traner; Joachim M. Baehring; Anita Huttner; Jennifer Adams; Sandra Canosa; Jeffrey Sklar; Joseph A. Madri

    Atrial myxomas are generally considered benign neoplasms. The majority of tumors are sporadic and less than 10% are associated with an autosomal dominant condition known as the Carney complex, which is most often caused by germline mutation in the gene PRKAR1A. Whether this gene plays a role in the development of sporadic myxomas has been an area of debate, although recent studies have suggested that some fraction of sporadic tumors also carry mutations in PRKARIA. Extra-cardiac complications of atrial myxoma include dissemination of tumor to the brain; however, the dissemination of viable invasive tumor cells is exceedingly rare. We present here a 48-year-old white woman who developed multiple intracranial hemorrhagic lesions secondary to tumor embolism that progressed to ‘false’ aneurysm formation and invasion through the vascular wall into brain parenchyma 7 months after resection of an atrial myxoma. Whole exome sequencing of her tumor revealed multiple mutations in PRKAR1A not found in her germline deoxyribonucleic acid (DNA), suggesting that the myxoma in this patient was sporadic. Our patient illustrates that mutations in PRKAR1A may be found in sporadic lesions. Whether the presence of this mutation affects the clinical behavior of sporadic tumors and increases risk for metastasis is not clear. Regardless, the protein kinase A pathway which is regulated by PRKAR1A represents a possible target for treatment in patients with metastatic cardiac myxomas harboring mutations in the PRKARIA gene.

    更新日期:2019-12-25
  • Unexpected normal left ventricular systolic function after total chronic occlusion of left main coronary artery and stenosis of right coronary artery: a case report and review of the literature
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-23
    Younes Moutakiallah; Reda Mounir; Amir Aden Ali; Fouad Nya; Aniss Seghrouchni; Noureddine Atmani; Abdelmajid Bouzerda; Zouhair Lakhal; Mohamed Drissi; Mahdi Aithoussa

    Total occlusion of the left main coronary artery is a very rare finding in coronary angiography because of its highly lethal nature. Right coronary artery dominance and extensive collateral circulation are the principal determinant factors of survival after total occlusion of the left main coronary artery. The impact on the left ventricle is often significant with a profound alteration of its systolic function. We describe a 52-year-old North African man, a tobacco smoker, who presented symptoms of unstable angina related to a total chronic occlusion of his left main coronary artery with a right coronary artery stenosis. Unexpectedly, the impact on his left ventricle was absent with normal dimensions and systolic function. He underwent a successful on-pump coronary artery bypass grafting with uneventful postoperative course and good recovery. Total occlusion of the left main coronary artery is a rare condition, the fact that the left ventricle retains a normal size and systolic function makes it exceptional, which must be kept in mind to avoid dangerous examinations and delayed treatment. Coronary artery bypass surgery should be considered the main treatment of total chronic occlusion of the left main coronary artery.

    更新日期:2019-12-23
  • Pregnancy after mumps: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-22
    Parviz Shahabi; Shiva Asadzadeh; Hossein Bannazadeh Baghi; Behnaz Sadeghzadeh Oskouei

    Oophoritis, a complication of mumps, is said to affect only 5% of all postpubertal women. In this report, we present a case of a 31-year-old Iranian woman with amenorrhea and infertility due to an infantile uterus and atrophic ovaries associated with contracting mumps at a young age. She later successfully carried a healthy baby to term. The patient was diagnosed with oophoritis when she was 8 years of age. She had no menses before treatment. The patient underwent a low-dose contraceptive treatment from age 19 until she was 31 years of age. During this period, the size of her uterus was constantly monitored, which revealed constant yet slow uterine growth. At age 31, Drospil (containing 3 mg of drospirenone and 0.03 mg ethinyl estradiol) treatment was initiated and administered for 3 months, which led to substantial uterine growth and menses. After her uterus had reached a mature size, the patient was referred to an assisted reproductive technology clinic. There she received a donor oocyte that was fertilized with the sperm of her husband. She had a successful low-risk pregnancy after the second embryo transfer. Low-dose contraceptive treatment containing progesterone, followed by Drospil, which includes both estradiol and progesterone, had a synergistic effect that led to the growth of the patient’s uterus.

    更新日期:2019-12-22
  • Recurrent giant fibroadenomas with transformation to cystosarcoma phyllodes in a 17-year-old girl: a rare case report from Syria
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-21
    Sawsan Ismail; Sara Alaidi; Sarah Jouni; Yahya Kassab; Zuheir Al-Shehabi

    Fibroadenoma is the most prevalent benign breast lesion that generally affects middle-aged women; it is rare in adolescents and younger children. The transformation into malignancy is not common. However, multiple recurrences of rapidly enlarging fibroadenomas suggest a high possibility of transforming into phyllodes tumors, which are uncommon fibroepithelial lesions that account for 0.3–0.5% of female breast tumors and typically present in premenopausal women. We report a case of a 17-year-old Syrian girl who previously had three episodes of recurrence of multiple rapidly enlarging fibroadenomas in her left breast and underwent three operations for complete resection of the lesions. However, a few months later, she was readmitted with multiple large masses in the same breast, and pathological findings confirmed a surprising combination of multiple fibroadenomas for the fourth time with a malignant phyllodes tumor (cystosarcoma phyllodes). The patient underwent lumpectomies followed by adjuvant radiotherapy. Long-term follow-up was recommended. Our patient had an extraordinary number of episodes of recurrence at a young age and a rare combination of malignant and benign lesions in the same breast with multiple recurrences. We present her unique, very challenging case with the aim of highlighting the importance of clinical correlation, detailed diagnosis, and careful follow-up.

    更新日期:2019-12-21
  • Neck paraganglioma and follicular lymphoma: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-20
    Lara Marchetti; Luca Perrucci; Francesca D’Ercole; Maria Chiara Zatelli; Maria Rosaria Ambrosio; Melchiore Giganti; Aldo Carnevale

    Paragangliomas and pheochromocytomas are sympathetic or parasympathetic tumors derived from the paraganglia and the adrenal medulla, respectively. Paragangliomas and pheochromocytomas can be sporadic or familial, the latter frequently being multifocal and possibly due to succinate dehydrogenase complex genes mutations. In addition, 12% of sporadic paragangliomas are related to covered succinate dehydrogenase complex mutations. The importance of identifying succinate dehydrogenase complex mutations is related to the risk for these patients of developing multiple tumors, including non-endocrine ones, showing an aggressive clinical presentation. We report the case of a 45-year-old Caucasian man with an indolent mass in his neck. Ultrasound of his neck, magnetic resonance imaging, and 1,4,7,10-tetraazacyclododecane-N(I),N(II),N(III),N(IIII)-tetraacetic acid(D)-Phe(1)-thy(3)-octreotide (68Ga-DOTATOC) positron emission tomography-computed tomography and endocrine work-up were consistent with a carotid body paraganglioma with concomitant nodal enlargement in several body regions, which turned out to be a follicular lymphoma at histology. He was found to carry a germline Succinate dehydrogenase subunit B gene (SDHB) mutation. It is crucial to look for a second malignancy in the case of a paraganglioma demonstrating succinate dehydrogenase complex germline mutations.

    更新日期:2019-12-20
  • Dermatofibrosarcoma protuberans – the use of neoadjuvant imatinib for treatment of an uncommon breast malignancy: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-19
    Matthew W. McGee; Sarag A. Boukhar; Varun Monga; Ronald Weigel; Sneha D. Phadke

    Dermatofibrosarcoma protuberans is a rare soft tissue malignancy that, if left untreated, can be locally destructive and life-threatening. Dermatofibrosarcoma protuberans is uncommon in the breast, and the similarity of its morphologic features with other spindle cell malignancies can make correct identification difficult. Immunohistochemistry and molecular testing can aid in the correct diagnosis when there is diagnostic uncertainty. Imatinib, a selective tyrosine kinase inhibitor, has been used for adjuvant treatment of dermatofibrosarcoma protuberans following surgical resection. When used as a neoadjuvant treatment, imatinib offers the opportunity to decrease tumor size prior to surgery to lessen the chance for disfigurement. We present the case of a Caucasian woman who was 46-year-old when she first noted a mass in her right breast in 2015; she was initially diagnosed as having metaplastic breast carcinoma. Mastectomy and systemic chemotherapy were planned; however, after review of pathology at a referral center, the diagnosis was changed to dermatofibrosarcoma protuberans. She was treated with 4 months of neoadjuvant imatinib with adequate tumor shrinkage to perform breast conservation. This patient’s case stresses the importance of correctly diagnosing this rare breast tumor through the histopathologic appearance of dermatofibrosarcoma protuberans, molecular pathogenesis, and immunohistochemistry. These techniques can help differentiate dermatofibrosarcoma protuberans from metaplastic breast carcinoma and other spindle cell lesions of the breast. This is critical, as the treatment options for metaplastic breast carcinoma significantly differ from treatment options for dermatofibrosarcoma protuberans. This case describes the use of imatinib as a neoadjuvant option to reduce preoperative tumor size and improve surgical outcomes.

    更新日期:2019-12-19
  • Continuous intravenous low-dose diclofenac sodium to control a central fever after ischemic stroke in the intensive care unit: a case report and review of the literature
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-18
    L. G. Giaccari; M. C. Pace; M. B. Passavanti; P. Sansone; V. Esposito; C. Aurilio; V. Pota

    Elevation in body temperature within the first 24 hours of ischemic stroke is fairly common and known to be associated with worse outcomes. Only after thoroughly ruling out infection and the noninfectious etiologies and in the appropriate clinical setting should the diagnosis of central fever be made. Acetaminophen and nonsteroidal anti-inflammatory drugs are typical therapeutic options. External cooling is frequently used when pharmacologic interventions are inadequate. However, reports have suggested that neurogenic fevers are somewhat resistant to traditional pharmacologic therapies. We describe a case of a Caucasian patient with central fever after ischemic stroke not responsive to acetaminophen administration and external cooling. After an initial bolus of diclofenac sodium (0.2 mg/kg in 100 ml of saline solution for 30 minutes), a continuous infusion (75 mg in 50 ml of saline solution) was started. After 5 days of treatment, the patient’s body temperature was below 37.5 °C, and the diclofenac sodium infusion was stopped. We observed that a low-dose diclofenac sodium infusion was effective in treating fever without systemic side effects. This treatment may be suggested as an alternative to conventional antipyretic drugs, but additional clinical trials are required.

    更新日期:2019-12-18
  • Whole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-14
    Pablo A. Ledesma; Juan Carlos Guerra; Manuel Burbano; Patricio Procel; Luis Alberto Pedroza

    Acute disseminated encephalomyelitis is generally preceded by an infection, and it is usually self-limiting and non-recurrent. However, when there are multiple attacks of acute disseminated encephalomyelitis followed by optic neuritis, it is defined as acute disseminated encephalomyelitis-optic neuritis. To the best of our knowledge, there are no previous reports of acute disseminated encephalomyelitis and optic neuritis preceded by autoinflammation, triggered by periodic fever syndrome. We report on a case of acute disseminated encephalomyelitis with optic neuritis and periodic fever syndrome in a 12-year-old Ecuadorian Hispanic boy with several relapses over the past 10 years, always preceded by autoinflammatory manifestations and without evidence of infectious processes. Whole exome sequencing was performed, and although the results were not conclusive, we found variants in genes associated with both autoinflammatory (NLRP12) and neurological (POLR3A) phenotypes that could be related to the disease pathogenesis having a polygenic rather than monogenic trait. We propose that an autoinflammatory basis should be pursued in patients diagnosed as having acute disseminated encephalomyelitis and no record of infections. Also, we show that our patient had a good response after 1 year of treatment with low doses of intravenous immunoglobulin and colchicine.

    更新日期:2019-12-17
  • Development of an abdominal wall abscess caused by fish bone ingestion: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-15
    Kiyomitsu Kuwahara; Yasuji Mokuno; Hideo Matsubara; Hirokazu Kaneko; Mikihiro Shamoto; Shinsuke Iyomasa

    A small percentage of patients with foreign body ingestion develop complications, which have a variety of clinical presentations. Less than 1% of cases require surgical intervention. We present a patient with an abdominal wall abscess resulting from a fish bone that pierced the cecum. The patient was treated laparoscopically. A 55-year-old Japanese man presented to our hospital with a complaint of right lower abdominal pain. A physical examination revealed tenderness, swelling, and redness at the right iliac fossa. Computed tomography showed a low-density area with rim enhancement in his right internal oblique muscle and a hyperdense 20 mm-long pointed object in the wall of the adjacent cecum. Based on the findings we suspected an abdominal wall abscess resulting from a migrating ingested fish bone. He was administered antibiotics as conservative treatment, and the abscess was not seen on subsequent computed tomography. Two months after the initial treatment, he presented with the same symptoms, and a computed tomography scan showed the foreign body in the same location as before with the same low-density area. We diagnosed the low-density area as recurrence of the abdominal wall abscess. He underwent laparoscopic surgery to remove the foreign body. His appendix, and part of his cecum and the parietal peritoneum that included the foreign body, were resected. He had an uneventful postoperative course, and at 1 year after the surgery, the abdominal wall abscess had not recurred. An abdominal wall abscess developed in association with the migration of an ingested fish bone. We suggest that a laparoscopic surgical resection of the portion of the bowel that includes the foreign body is a useful option for selected cases.

    更新日期:2019-12-17
  • Septo-optic dysplasia with amniotic band syndrome sequence: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-16
    Insiyah A. Amiji; Ummulkheir H. Mohamed; Adelina G. Rutashobya; Mariam Mngoya; Nicole Schoenmann; Helga E. Naburi; Karim P. Manji

    De Morsier syndrome, or septo-optic dysplasia, is a rare, heterogeneous, complex condition with a highly variable phenotype. It is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline brain abnormalities, including absence of septum pellucidum and corpus callosum dysgenesis. Diagnosis is made clinically by the presence of any two or more features from the clinical triad. We report a case of a premature African newborn male baby born to nonconsanguineous parents who presented to our institution with agenesis of the septum pellucidum, unilateral optic nerve hypoplasia, and pituitary stalk hypoplasia. However, he had intact central endocrine function. He also presented with limb defects due to constricting amniotic band syndrome. Other dysmorphic features were low-set ears, microcephaly, and bilateral talipes equinovarus. He otherwise had a normal neurological examination result. Over time, he had an adequate weight gain and was managed by a multidisciplinary team. De Morsier syndrome still represents a diagnostic challenge, despite advances in neuroimaging and genetic studies, due to the heterogeneous nature of the disorder. This case adds to existing knowledge on the vascular pathogenesis of septo-optic dysplasia.

    更新日期:2019-12-17
  • A patient with metformin-associated lactic acidosis successfully treated with continuous renal replacement therapy: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-17
    Hiroki Kinoshita; Machi Yanai; Koichi Ariyoshi; Motozumi Ando; Ryo Tamura

    Metformin has been widely used as a first-line agent to treat type 2 diabetes mellitus. Lactic acidosis is a rare but serious adverse effect in patients treated with metformin. Recent studies noted a correlation between metformin accumulation and lactic acidosis. Continuous renal replacement therapy for the treatment of metformin-associated lactic acidosis has been documented in some case reports; however, there is currently no specific treatment for metformin-associated lactic acidosis. A 70-year-old Japanese woman with type 2 diabetes mellitus presented to an emergency room with metformin-associated lactic acidosis. She was found to be hypotensive and laboratory examinations revealed severe lactic acidosis: pH 6.618, partial pressure of carbon dioxide in arterial blood 17.3 mmHg, bicarbonate 1.7 mmol/L, and lactate 18 mmol/L. Severe acidemia persisted despite supportive care including intravenously administered fluids, sodium bicarbonate, antibiotics, and vasopressors. Continuous renal replacement therapy was initiated in our intensive care unit. After dialysis for 3 days, her lactate level and pH value completely normalized. The concentration of metformin detected was 77.5 mg/L, which is one of the highest in metformin-associated lactic acidosis successfully treated without overdose. The present case had one of the highest metformin concentrations in metformin-associated lactic acidosis successfully treated with continuous renal replacement therapy, and serum metformin concentrations may be useful for the diagnosis of metformin-associated lactic acidosis. Metformin-associated lactic acidosis is a rare but important etiology of lactic acidosis. Continuous renal replacement therapy is advantageous for the treatment of hemodynamically unstable patients with metformin-associated lactic acidosis.

    更新日期:2019-12-17
  • Iris metastasis as the initial presentation of upper gastrointestinal tract carcinoma: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-13
    M. A. Rehman Siddiqui; Syed Zohaib Maroof Hussain; Muhammed Mubarak

    We report a case of a patient with iris metastasis as the initial manifestation of a systemic cancer: upper gastrointestinal tract carcinoma. A 24-year-old Asian man presented to our hospital with complaints of red left eye, decreased visual acuity, pain, and photophobia for about 3 weeks with no prior history of cancer or any other medical abnormality. Ocular examination showed a pinkish white lesion on the superonasal part of the iris. The patient’s intraocular pressure was progressively increasing despite medications, followed by lymphadenopathy 4 weeks later. Comprehensive examination was performed along with a complete systemic workup, which detected systemic malignancy. Histopathology and immunohistochemistry revealed signet ring cells, which indicated an upper gastrointestinal tract tumor as a primary source of iris metastasis. The systemic condition of the patient deteriorated rapidly thereafter and led to his death in the 12th week of the disease. A red eye with iris lesions in otherwise healthy individuals should be considered as a possible initial manifestation of underlying systemic malignancy. Prompt referral of such patients to an oncologist is warranted.

    更新日期:2019-12-13
  • Graves disease-induced thrombotic thrombocytopenic purpura: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-13
    Saira Chaughtai; Ijaz Khan; Varsha Gupta; Zeeshan Chaughtai; Raquel Ong; Arif Asif; Mohammad A. Hossain

    Thrombotic thrombocytopenic purpura is an autoimmune disease that carries a high mortality. Very few case reports in the literature have described a relationship between Graves disease and thrombotic thrombocytopenic purpura. We present a case of a patient with Graves disease who was found to be biochemically and clinically hyperthyroid with concurrent thrombotic thrombocytopenic purpura. Our patient was a 30-year-old African American woman with a history of hypertension and a family history of Graves disease who had recently been diagnosed with hyperthyroidism and placed on methimazole. She presented to our hospital with the complaints of progressive shortness of breath and dizziness. Her vital signs were stable. On further evaluation, she was diagnosed with thrombotic thrombocytopenic purpura, depending on clinical and laboratory results, and also was found to have highly elevated free T4 and suppressed thyroid-stimulating hormone. She received multiple sessions of plasmapheresis and ultimately had a total thyroidectomy. The patient’s hospital course was complicated by pneumonia and acute respiratory distress syndrome. Her platelets stabilized at approximately 50,000/μl, and her ADAMTS13 activity normalized despite multiple complications. The patient ultimately had a cardiac arrest with pulseless electrical activity and died despite multiple attempts at cardiopulmonary resuscitation. Graves disease is an uncommon trigger for the development of thrombotic thrombocytopenic purpura, and very few cases have been reported thus far. Therefore, clinicians should be aware of this association in the appropriate clinical context to comprehensively monitor hyperthyroid patients during treatment.

    更新日期:2019-12-13
  • Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-12
    Sarah Belin; Cristina Delco; Paloma Parvex; Sylviane Hanquinet; Siv Fokstuen; Begoña Martinez de Tejada; Isabelle Eperon

    Autosomal recessive renal polycystic kidney disease occurs in 1 in 20,000 live births. It is caused by mutations in both alleles of the PKHD1 gene. Management of delivery in cases of suspected autosomal recessive renal polycystic kidney disease is rarely discussed, and literature concerning abdominal dystocia is extremely scarce. We present a case of a patient with autosomal recessive renal polycystic kidney disease whose delivery was complicated by abdominal dystocia, and we discuss the factors that determined the route and timing of delivery. A 23-year-old Caucasian woman, G2 P0, with a prior unremarkable pregnancy was referred to our tertiary center at 31 weeks of gestation because of severe oligoamnios (amniotic fluid index = 2) and hyperechogenic, dedifferentiated, and enlarged fetal kidneys. She had no other genitourinary anomaly. Fetal magnetic resonance imaging showed enlarged, hypersignal kidneys and severe pulmonary hypoplasia. We had a high suspicion of autosomal recessive renal polycystic kidney disease, and after discussion with our multidisciplinary team, the parents opted for conservative care. Ultrasound performed at 35 weeks of gestation showed a fetal estimated weight of 3550 g and an abdominal circumference of 377 mm, both above the 90th percentile. Because of the very rapid kidney growth and suspected risk of abdominal dystocia, we proposed induction of labor at 36 weeks of gestation after corticosteroid administration for fetal lung maturation. Vaginal delivery was complicated by abdominal dystocia, which resolved by continuing expulsive efforts and gentle fetal traction. A 3300-g (P50–90) male infant was born with Apgar scores of 1-7-7 at 1, 5, and 10 minutes, respectively, and arterial and venous umbilical cord pH values of 7.23–7.33. Continuous peritoneal dialysis was started at day 2 of life because of anuria. Currently, the infant is 1 year old and is waiting for kidney transplant that should be performed once he reaches 10 kg. Molecular analysis of PKHD1 performed on deoxyribonucleic acid (DNA) from the umbilical cord confirmed autosomal recessive renal polycystic kidney disease. Management of delivery in cases of suspected autosomal recessive renal polycystic kidney disease needs to be discussed because of the risk of abdominal dystocia. The route and timing of delivery depend on the size of the fetal abdominal circumference and the gestational age. The rate of kidney growth must also be taken into account.

    更新日期:2019-12-13
  • Osteogenesis imperfecta and pregnancy: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-11
    Felix Chamunyonga; Kudzaishe Lloyd Masendeke; Bismark Mateveke

    Osteogenesis imperfecta is a rare connective tissue disorder of varying phenotypic presentations. In pregnancies complicated by osteogenesis imperfecta, there is an increased risk to both the mother and fetus. We present a case of a 34-year-old, wheelchair-bound, primigravid African (Zimbabwean) patient with short stature and skeletal deformities. Her care, requiring a multidisciplinary team approach, resulted in the delivery of a live baby girl with a birth weight of 2100 g, also with osteogenesis imperfecta. Good outcomes are reported when a multidisciplinary team is involved in the care of patients with osteogenesis imperfecta. Pregnancies can be carried to term but require close antenatal surveillance. Prenatal diagnosis is possible with ultrasound and genetic testing. Delivery should be carefully planned by a multidisciplinary team. Decisions on delivery mode should be made on a case-by-case basis.

    更新日期:2019-12-11
  • Contralateral migration of Kirschner wire from right acromioclavicular joint to left side of neck: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-11
    How-Yun Ko; Ka-Wo Lee

    Kirschner wire migration is one of the most common complications after internal fixation of fracture or dislocation in the shoulder region. However, cases of contralateral wire migration are rare. We present a case of contralateral loosened Kirschner wire migration from the right acromioclavicular joint to the left side of the neck without damage to any important structures or great vessels. We report a case of a loosened Kirschner wire migrating from the right acromioclavicular joint to the left side of the neck in a 34-year-old Taiwanese man following a route of transversal, descendant, and then ascendant directions. The Kirschner wire was removed by exploratory neck dissection under C-arm fluoroscopy assistance without complication. Wire migration may occur after surgical treatment with or without clinical complaint. Several hypotheses for the mechanism of wire migration have been postulated, including muscular activity, respiratory motion, gravity, and motion of upper extremity. Therefore, the importance of follow-up should be communicated to the patient. Once wire loosening or migration is noted, the implant should be removed immediately under intraoperative C-arm fluoroscopy or ultrasound assistance.

    更新日期:2019-12-11
  • Huge abdominal cerebrospinal fluid pseudocyst following ventriculoperitoneal shunt: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-10
    Yasuhiro Koide; Takaaki Osako; Masahiro Kameda; Hiromi Ihoriya; Hirotsugu Yamamoto; Noritomo Fujisaki; Toshiyuki Aokage; Tetsuya Yumoto; Isao Date; Hiromichi Naito; Atsunori Nakao

    Abdominal pseudocysts comprising cerebrospinal fluid are an uncommon but significant complication in patients with ventriculoperitoneal shunt. We present a successfully treated 12-year-old boy with a history of ventriculoperitoneal shunting and a huge abdominal cerebrospinal fluid pseudocyst. A12-year-old Japanese boy presented with a deteriorated consciousness and a palpable and elastic large lower abdominal mass. Computed tomography of his abdomen demonstrated a collection of homogenous low-density fluid near the catheter tip of the ventriculoperitoneal shunt. Cerebral computed tomography revealed an increased ventricular size. Based on the clinical diagnosis of abdominal pseudocyst, the peritoneal shunt catheter was secured and divided into two parts by cutting it on the chest; then, the proximal side of the peritoneal shunt catheter was externalized for extraventricular drainage. The cyst was percutaneously aspirated with ultrasound guidance, and the distal side of the peritoneal shunt catheter was removed. The distal side of the peritoneal shunt catheter was reinserted in another position into his abdomen after 3-week extraventricular drainage management. Emergency physicians should know about this potential complication as an important differential diagnosis resulting from acute abdominal complaints in patients with ventriculoperitoneal shunts.

    更新日期:2019-12-11
  • Massive hematuria due to an autogenous saphenous vein graft and urinary bladder fistula in an extra-anatomic iliofemoral bypass: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-08
    Luan Jaha; Vlora Ismaili-Jaha; Bekim Ademi; Fahredin Veselaj; Destan Kryeziu; Bujar Gjikolli; Agreta Gecaj-Gashi; Adhurim Koshi; Art Jaha

    Gross hematuria caused by rupture of an artery in the urinary tract is a rare but potentially fatal condition. Iliac artery aneurysms, pelvic surgery with radiation, vascular reconstructive surgery, surgery for stenosis of the ureteropelvic junction, and transplantation are reported to be associated with this condition. In the vascular reconstructive surgery group, the most common etiology is rupture of the degenerated artery or synthetic graft in the ureter. We present a case of rupture of the small anastomotic pseudoaneurysm at the proximal anastomosis of a right iliofemoral autogenous vein extra-anatomic graft in the urinary bladder. To our knowledge, this is the first report of a rupture of an autogenous vein graft in the urinary bladder. Our patient, a 24-year-old Albanian farmer, was admitted to the emergency department in severe hemorrhagic shock induced by exsanguinating hematuria. He underwent immediate surgery, during which direct sutures to the bladder were placed and the saphenous graft was replaced with a synthetic one. The patient recovered completely, was free of hematuria, and showed no signs of pathological communication between the urinary and arterial tracts on postoperative cystoscopy and computed tomographic angiography during 2 years of follow-up. The incidence of artery-to-urinary tract fistulas is growing due to the increasing use of urologic and vascular surgery, pelvic oncologic surgery, and radiation therapy. In addition to fistulas involving a degenerated artery and ureter or synthetic grafts and ureter, they can also involve an autogenous vein graft and the urinary bladder. In our patient, the fistula was a result of erosion of the bladder from a pseudoaneurysm at the proximal anastomosis of an autogenous vein iliofemoral bypass in an extra-anatomic position. Open surgery remains the best treatment option, although there is increasing evidence of successful endovascular treatment.

    更新日期:2019-12-09
  • Atypical secondary syphilis presentation in a patient with human immunodeficiency virus infection: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-09
    Nina Yancheva; Elena Petrova; Tatyana Tchervenyakova

    Untreated syphilis may lead to severe complications. This infection has recently re-emerged in developed countries with a high number of cases coinfected with human immunodeficiency virus. In these patients, the skin lesions of secondary syphilis can be very atypical. We report the case of a 38-year-old Bulgarian homosexual man who was coinfected with human immunodeficiency virus and syphilis. His skin contained multiple extensive necrotic lesions with abundant purulent secretion that covered his face, lips, scalp, and torso. Initial clinical diagnoses included varicella pustulosa and staphylococcal dermatitis. Human immunodeficiency virus infection in our patient had been established 2 years earlier in prophylactic studies, but had not been treated. Due to lack of penicillin, he was successfully treated with ceftriaxone, and the skin lesions underwent complete reversal. He also began antiretroviral therapy, which resulted in a significant effect on his immune status. Three months after the onset of antiretroviral therapy, he also achieved optimal viral suppression. This case emphasizes the importance of considering cutaneous secondary syphilis in the differential diagnosis of any inflammatory cutaneous disorder in individuals infected with human immunodeficiency virus.

    更新日期:2019-12-09
  • Scrub typhus with multi-organ dysfunction syndrome and immune thrombocytopenia: a case report and review of the literature
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-07
    Weijia Li; Lei Huang; Weixing Zhang

    Scrub typhus is an acute infectious zoonotic disease caused by Orientia tsutsugamushi. Multi-organ dysfunction secondary to scrub typhus is hard to diagnose and has a high mortality rate. Only one case of scrub typhus with multi-organ dysfunction syndrome and immune thrombocytopenia has been reported thus far. In this study, we report a second case of scrub typhus with multi-organ dysfunction syndrome and immune thrombocytopenia, and we summarize its diagnosis and treatment. A 43-year-old Han Chinese woman, a sanitation worker, was admitted to our hospital after 7 days of a skin infection and 5 days of a sore throat with fever and dizziness. A physical examination revealed the presence of an eschar on the right side of her neck. She had a history of insect bites during her sanitation work. A diagnostic evaluation identified scrub typhus as the primary illness, which was associated with multi-organ dysfunction syndrome and immune thrombocytopenia. She recovered completely after 15 days of treatment and extensive symptomatic supportive care. We report a second case of tsutsugamushi disease with multi-organ dysfunction syndrome and immune thrombocytopenia, which resolved after treatment and extensive care.

    更新日期:2019-12-07
  • Paraneoplastic pyoderma gangrenosum associated with adenocarcinoma of the rectosigmoid junction: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-07
    Fousséni Alassani; Panawe Kassang; Efoe-Ga Amouzou; Boyodi Tchangai; Kossi Abossisso Sakiye; Tchin Darré; Bayaki Saka; Komla Attipou

    Pyoderma gangrenosum is a rare, idiopathic, inflammatory, neutrophilic dermatitis characterized by sterile skin ulceration. It can be associated with an underlying pathology, especially inflammatory bowel disease and hematological malignancies. Its association with a malignant pathology in the context of a paraneoplastic syndrome is more commonly described in hematological malignancies, with solid tumors being rare. We report a case of a 39-year-old West African man with pyoderma gangrenosum that developed 6 months before the clinical expression of rectosigmoid junction cancer. The removal of the cancer resulted in the patient’s recovery. Recurrent pyoderma gangrenosum lesions may be the expression of colonic adenocarcinoma in paraneoplastic syndrome and require colonoscopy, especially in at-risk patients.

    更新日期:2019-12-07
  • Proteinase 3-antineutrophil cytoplasmic antibody-positive necrotizing crescentic glomerulonephritis complicated by infectious endocarditis: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-05
    Katsunori Yanai; Yoshio Kaku; Keiji Hirai; Shohei Kaneko; Saori Minato; Yuko Mutsuyoshi; Hiroki Ishii; Taisuke Kitano; Mitsutoshi Shindo; Haruhisa Miyazawa; Kiyonori Ito; Yuichiro Ueda; Masahiro Hiruta; Susumu Ookawara; Yoshihiko Ueda; Yoshiyuki Morishita

    Proteinase 3-antineutrophil cytoplasmic antibody has been reported to be positive in 5–10% of cases of renal injury complicated by infective endocarditis; however, histological findings have rarely been reported for these cases. A 71-year-old Japanese man with a history of aortic valve replacement developed rapidly progressive renal dysfunction with gross hematuria and proteinuria. Blood analysis showed a high proteinase 3-antineutrophil cytoplasmic antibody (163 IU/ml) titer. Streptococcus species was detected from two separate blood culture bottles. Transesophageal echocardiography detected mitral valve vegetation. Histological evaluation of renal biopsy specimens showed necrosis and cellular crescents in glomeruli without immune complex deposition. The patient met the modified Duke criteria for definitive infective endocarditis. On the basis of these findings, the patient was diagnosed with proteinase 3-antineutrophil cytoplasmic antibody-positive necrotizing crescentic glomerulonephritis complicated by Streptococcus infective endocarditis. His renal disease improved, and his proteinase 3-antineutrophil cytoplasmic antibody titer normalized with antibiotic monotherapy. Few case reports have described histological findings of proteinase 3-antineutrophil cytoplasmic antibody-positive renal injury complicated with infective endocarditis. We believe that an accumulation of histological findings and treatments is mandatory for establishment of optimal management for proteinase 3-antineutrophil cytoplasmic antibody-positive renal injury complicated with infective endocarditis.

    更新日期:2019-12-05
  • Reconstruction of the pelvis after traumatically induced bilateral partial hemipelvectomy: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-04
    Ayako Kamitomo; Minoru Hayashi; Ryohei Tokunaka; Yuki Yoshida; Sayo Tatsuta; Yoshie Sasaki

    Traumatic hemipelvectomy is a catastrophic fracture of the pelvis as a result of high-energy trauma, such as in a car accident. There have been few case reports of traumatic hemipelvectomy because many of these patients die before they are transferred to a hospital. However, an increasing number of patients are being saved and admitted to hospital due to improvements in resuscitation and the emergency response system. Accordingly, there has been a growing body of reports on the management and reconstruction of traumatic hemipelvectomy. A healthy 20-year-old Japanese man was trapped beneath a 3-ton steel frame while working on a crane. We describe here a very challenging case of traumatically induced bilateral partial hemipelvectomy with successful reconstruction of our patient’s pelvis using a unilateral anterolateral thigh flap. To the best of our knowledge, there have been few reports of bilateral hemipelvectomy and our case is the first to be successfully treated with a unilateral anterolateral thigh flap.

    更新日期:2019-12-04
  • Fibrodysplasia ossificans progressiva (stone man syndrome): a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-01
    Zakir Ali Shah; Sascha Rausch; Uzma Arif; Bilal El Yafawi

    Fibrodysplasia ossificans progressiva is an ultrarare autosomal dominant disorder and disabling syndrome characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. Fibrodysplasia ossificans progressiva has worldwide prevalence of about 1 in 2 million births. Nearly 90% of patients with fibrodysplasia ossificans progressiva are misdiagnosed and mismanaged and thus undergo unnecessarily interventions. So far, the number of reported existing cases worldwide is about 700. Clinical examination, radiological evaluation, and genetic analysis for mutation of the ACVR1 gene are considered confirmatory tools for early diagnosis of the disease. Association of fibrodysplasia ossificans progressiva with heterotopic ossification is well documented; however, postsurgical exaggerated response has never been reported previously, to the best of our knowledge. We report a case of a 10-year-old Pakistani boy brought by his parents to our institution. He had clinical and radiological features of fibrodysplasia ossificans progressive and presented with multiple painful lumps on his back due to hard masses and stiffness of his shoulders, neck, and left hip. He underwent surgical excision of left hip ossification followed by an exaggerated response in ossification with early disability. Radiological examination revealed widespread heterotopic ossification. All of his laboratory blood test results were normal. Fibrodysplasia ossificans progressiva is a very rare and disabling disorder that, if misdiagnosed, can lead to unnecessary surgical intervention and disastrous results of early disability. We need to spread knowledge to physicians and patients’ family members about the disease, as well as its features for early diagnosis and how to prevent flare-up of the disease to promote better quality of life in these patients.

    更新日期:2019-12-02
  • Successful resuscitation from prolonged hypothermic cardiac arrest without extracorporeal life support: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-12-02
    Melanie Kuhnke; Roland Albrecht; Joerg C. Schefold; Peter Paal

    We report a case of successful prolonged cardiopulmonary resuscitation (5 hours and 44 minutes) following severe accidental hypothermia with cardiac arrest treated without rewarming on extracorporeal life support. A 52-year-old Italian mountaineer, was trapped in a crevasse and rescued approximately 7 hours later by a professional rescue team. After extrication, he suffered a witnessed cardiac arrest with ventricular fibrillation. Immediate defibrillation and cardiopulmonary resuscitation were started. His core temperature was 26.0 °C. Due to weather conditions, air transport to an extracorporeal life support center was not possible. Thus, he was rewarmed with conventional rewarming methods in a rural hospital. Auto-defibrillation occurred at a core temperature of 29.8 °C after 5 hours and 44 minutes of continued cardiopulmonary resuscitation. With a core temperature of 33.4 °C, he was finally admitted to a level 1 trauma center and extracorporeal life support was no longer required. Seven weeks following the accident, he was discharged home with complete neurological recovery. Successful rewarming from severe hypothermia without extracorporeal life support use as performed in this case suggests that patients with primary hypothermic cardiac arrest have a chance of a favorable neurological outcome even after several hours of cardiac arrest when cardiopulmonary resuscitation and conventional rewarming are performed continuously. This may be especially relevant in remote areas, where extracorporeal life support rewarming is not available.

    更新日期:2019-12-02
  • Thymoma complicated with myasthenia gravis and Good syndrome – a therapeutic conundrum: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-11-29
    Shiran Paranavitane; Sumana Handagala; Rajiva De Silva; Thashi Chang

    Thymomas are known to be associated with myasthenia gravis and Good syndrome. Good syndrome is the association of thymoma with combined B cell and T cell immunodeficiency. The combination of all three diseases has not been reported. We discuss the therapeutic dilemma of immunosuppression in such a case. A 27-year-old Sinhalese man was evaluated for persistent cough which was associated with pleuritic chest pain and was found to have pleural-based lesions in his left hemithorax. Further evaluation confirmed these lesions to be implants from a thymoma. He subsequently developed myasthenia gravis and impending myasthenic crisis precipitated by pneumonia. He was found to have hypogammaglobulinemia with low B cell counts, confirming a diagnosis of Good syndrome. Treatment with intravenously administered broad-spectrum antibiotics, acetylcholinesterase inhibitors, orally administered glucocorticoids, plasma exchange, and intravenous immunoglobulin led to clinical improvement. He subsequently underwent thymectomy and debulking of the tumor and was maintained on regular intravenous immunoglobulins combined with low-dose prednisolone. Regular intravenous immunoglobulins combined with low-dose immunosuppression in addition to thymectomy appear to be safe when myasthenia gravis occurs in association with Good syndrome.

    更新日期:2019-11-30
  • Seesaw nystagmus with internuclear ophthalmoplegia from bilateral dorsomedial pons and left thalamus infarction: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-11-29
    Qian Zhang; Jian Li

    We describe for the first time the clinical features and mechanisms of a bilateral dorsomedial pons and left thalamus infarction with seesaw nystagmus and internuclear ophthalmoplegia. A 62-year-old Chinese man was hospitalized for sudden-onset dizziness, diplopia, and gait disturbance. A neurological examination revealed seesaw nystagmus and internuclear ophthalmoplegia. Magnetic resonance imaging disclosed an acute infarction confined to the bilateral dorsomedial pons and left thalamus. Subsequently, 2 weeks of antithrombotic therapy led to an improvement in his symptoms. This case illustrates that the acute onset of seesaw nystagmus and internuclear ophthalmoplegia accompanied by risk factors for cerebrovascular diseases are highly suggestive of brainstem infarction.

    更新日期:2019-11-30
  • Advanced primary urethral cancer: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-11-29
    Huan Chen; Li Li Zou; Chuan Jiang Dong; Tao Li; Zi Qiang Dong

    Primary urethral cancer is exceedingly rare, resulting in a limitation in clinicians’ experience, and an accurate diagnosis is often delayed due to the non-specific clinical presentation. Here, we present this case report to show the treatment of a patient with primary urethral cancer. Our patient was diagnosed as having primary urethral cancer in the First Clinical Hospital of Yichang by cystoscopy and biopsy. Due to her age, poor physical tolerance, and economic condition, she refused radical operation. Since there is no definite guideline for the treatment process of primary urethral cancer in clinics, operation methods and postoperative adjuvant treatments vary in different hospitals, leading to diverse prognostic effects. An 88-year-old Asian woman had difficulty in urinating for more than 6 months and the syndrome was aggravated for 1 month. She chose a relatively conservative treatment plan: primary tumor resection combined with bladder perfusion chemotherapy. Postoperative pathology revealed “urethra” high-grade urothelial carcinoma (sarcoma-like variants) with extensive necrosis. After treatment with intravesical chemotherapeutic drug (hydroxycamptothecin 40 mg), she was eventually released from our hospital in a stable condition. Postoperation follow-up was performed to observe to what extent this conservative treatment plan improved the quality of life and overall survival time of our patient. She needed radical resection according to the actual situation. However, her age restricted her tolerance to general anesthesia; relatively conservative treatment options are available to ensure a high quality of life. The treatment of primary tumor resection combined with bladder perfusion chemotherapy is feasible. This case highlights the importance of the dissemination of new cases and optimizing primary urethral cancer diagnosis to obtain an effective treatment.

    更新日期:2019-11-30
  • Detection of severe hypertension in a patient with neurofibromatosis type 1 during anesthesia induction: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-11-30
    Juan Wang; Guohua Wei; Zhongyun Wang; He Huang

    Neurofibromatosis type 1 has a higher prevalence of pheochromocytoma and paraganglioma than the general population: 1.0–5.7% versus 0.2–0.6%. Currently, there are no generally accepted guidelines for screening for pheochromocytoma and paragangliomas in asymptomatic patients with neurofibromatosis type 1. Severe hypertension developed during anesthesia induction in our patient, a 44-year-old Chinese man with neurofibromatosis type 1. We screened for catecholamine level after glioma resection, and the patient was diagnosed with combined pheochromocytoma and paraganglioma. A delay in diagnosis or lack of a diagnosis in pheochromocytoma and paraganglioma may increase the perioperative morbidity and mortality risk due to excess catecholamine secretion. Therefore, routine pheochromocytoma and paraganglioma screening preoperatively in patients with neurofibromatosis type 1 is very important.

    更新日期:2019-11-30
  • A pediatric cancer patient with suspected chemical coping following high-dose opioid therapy: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-11-30
    Mototsugu Miura; Kenkichi Tsuruga; Yuji Morimoto

    Chemical coping is an inappropriate method for dealing with stress through the use of opioids; it is considered the stage prior to abuse and dependence. In patients with cancer, it is important to evaluate the risk of chemical coping when using opioids. There are some pediatric opioid use-related tolerances and addictions; however, no mention of chemical coping has been found. We present a case of an 11-year-old Japanese boy with acute lymphocytic leukemia. After transplantation, he complained of abdominal and articular pain, which are considered as symptoms of graft-versus-host disease; thus, opioid therapy was initiated, and the dose was gradually increased for pain management, resulting in a high dose of 2700 μg/day of fentanyl (4200–4700 μg/day including the rescue dose). After switching from fentanyl to oxycodone injections, he continued to experience pain, and there was no change in the frequency of oxycodone rescue doses. Physically, his pain was considered to have alleviated; thus, there was the possibility of mental anxiety resulting in the lowering of pain threshold and the possibility of chemical coping. Mental anxiety and stress with progress through schooling was believed to have resulted in chemical coping; thus, efforts were made to reduce the boy’s anxiety, and opioid education was provided. However, dose reduction was challenging. Ultimately, with guidance from medical care providers, the opioid dose was reduced, and the patient was successfully weaned off opioids. When chemical coping is suspected in pediatric patients, after differentiating from pseudo-addiction, it might be necessary to restrict the prescription for appropriate use and to provide opioid education while taking into consideration the emotional background of the patient that led to chemical coping.

    更新日期:2019-11-30
  • Primary effusion lymphoma in a human immunodeficiency virus-negative patient with unexpected unusual complications: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-09-23
    Liliana Fernández-Trujillo; John E. Bolaños; Mauricio Velásquez; Carlos García; Luz F. Sua

    Primary effusion lymphoma is a rare, high-grade non-Hodgkin’s lymphoma that usually occurs in immunosuppressed or human immunodeficiency virus-positive individuals in advanced stages of the disease. However, primary effusion lymphoma occasionally affects immunocompetent patients who are infected with human herpes virus type 8 or Epstein-Barr virus. This disease manifests with liquid collections in cavities, producing constitutional symptoms; fever; weight loss; and symptoms related to extrinsic compression, such as dyspnea or abdominal discomfort. Diagnosis is confirmed with cytological or tissue evaluation showing large, multinucleated lymphoid cells with positive specific markers for the disease, such as CD45 and markers related to viral infections, when present. There is no standard treatment for primary effusion lymphoma, but several chemotherapy protocols are recommended, usually with poor results. We present a case of an adult human immunodeficiency virus-negative Hispanic origin woman with primary effusion lymphoma with pleuritic, pericardial, and peritoneal compromise who also had unusual complications during a diagnostic procedure: the accidental rupture of the left ventricle and the development of a secondary left ventricular pseudoaneurysm. We describe the clinical, radiological, and laboratory characteristics as well as the outcome of this case. Primary effusion lymphoma is a very rare entity that represents 4% of non-Hodgkin’s lymphoma cases associated with human immunodeficiency virus and 0.1% to 1% of all lymphomas in patients with another type of immunodeficiency in regions where human herpes virus type 8 is not endemic. This reported case is an unusual presentation of primary effusion lymphoma because it occurred in an immunocompetent human immunodeficiency virus-negative adult woman without the presence of Kaposi’s sarcoma or Castleman’s disease and for whom the clinical course after chemotherapy was successful. However, the rupture of the free wall of the left ventricle is a very rare catastrophic event that usually occurs after myocardial infarction. Left ventricle free wall rupture rarely goes unnoticed, but when it occurs, it leads to the development of a ventricular pseudoaneurysm in which the rupture is contained by the pericardium with an organized thrombus and an adjacent hematoma.

    更新日期:2019-11-28
  • Aseptic meningitis caused by torque teno virus in an infant: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-09-24
    Yoji Ikuta; Kunihiro Oba; Emina Nai; Tatsuo Katori; Masanori Hashino; Yuba Inamine; Satoko Matsunaga; Yutaro Yamaoka; Tsuyoshi Sekizuka; Akihide Ryo; Makoto Kuroda

    Torque teno virus-induced aseptic meningitis has not been documented, although torque teno virus infections still remain under consideration for etiological agents. This study identified a torque teno virus sequence using next generation sequencing and immunoglobulin M response to the torque teno virus antigen, therefore, that would be a comprehensive diagnosis for torque teno virus infection. A 2-month-old Japanese boy was brought to our hospital because he was irritable, drowsy, and lethargic. He was admitted based on his test results which indicated the possibility of septic meningitis. He was started on treatment with high-dose antibiotics and steroids. On the third day of hospitalization, he became afebrile with improvement in his general status and was discharged on the sixth day. He had no developmental problems for up to 1 year after discharge. Metagenomic ribonucleic acid-Seq pathogen detection using next generation sequencing of a sample of his cerebrospinal fluid, which was collected at admission, revealed three short reads homologous to those in torque teno virus out of a total of 1,708,516 reads. This finding indicated that our patient was positive compared to the torque teno virus-negative cerebrospinal fluid samples (controls) from 13 other patients. The torque teno virus has been shown to have a whole genome sequence of 2810 nt by polymerase chain reaction. We prepared a recombinant GP2 antigen from torque teno virus and used it to study our patient’s anti-torque teno virus immune response. An anti-GP2 serum immunoglobulin M response was detected, providing further supportive evidence of torque teno virus infection. This case speculates that torque teno virus-induced aseptic meningitis has a good course. New technologies like next generation sequencing can help in the identification of such cases, and an accumulation of future cases is expected.

    更新日期:2019-11-28
  • Ovarian abscess caused by Salmonella enterica serovar Typhi: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-09-25
    Aneley Getahun S.; Josese Limaono; Raween Ligaitukana; Orisi Cabenatabua; Vika Soqo; Raape Diege; Mikaele Mua

    Typhoid fever is a human-specific disease caused by a bacterium, Salmonella enterica subspecies enterica serovar Typhi. It is transmitted through ingestion of contaminated food or water. It is mostly diagnosed by blood culture. Salmonella Typhi usually manifests as a febrile illness with bacteremia after initial entry through the gastrointestinal route, but it can occasionally cause significant disease in extraintestinal sites. We report a case of a girl in Fiji with a right ovarian abscess infected by Salmonella Typhi. A 14-year-old iTaukei (indigenous Fijian) girl presented to our hospital with abdominal pain of 1 month’s duration. Two days prior to her admission, she developed high-grade fever and nausea and had one episode of vomiting. On presentation, she appeared unwell; she was tachycardic (116 beats per minute) and febrile (38.8 °C). Her abdominal examination revealed generalized tenderness. Other examination findings were normal. The provisional diagnosis of abdominal sepsis led to an emergency laparotomy during which an enlarged right ovary was found to be spontaneously discharging pus. The ovary was incised and drained, and the patient was commenced on intravenous ceftriaxone 1 g twice daily, cloxacillin 1 g four times daily, and metronidazole 500 mg three times daily. She recovered promptly and was discharged to home on the sixth postoperative day. The purulent material from the ovary grew Salmonella Typhi. Extraintestinal infections caused by Salmonella Typhi are rare but can cause severe and life-threatening disease. Our patient had a prolonged history of abdominal pain and was found to have a ruptured right ovarian abscess due to Salmonella Typhi. Ovarian abscesses in girls who are not sexually active are not associated with pelvic inflammatory disease and suggest local or hematogenous spread. This case report may increase health workers awareness to include common and endemic infections in the differential diagnosis of unusual clinical presentations to help the initiation of appropriate investigation and management as quickly as possible.

    更新日期:2019-11-28
  • Burn wounds after electrical injury in a bathtub: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-09-26
    Sem F. Hardon; Pieter J. Haasnoot; Annebeth Meij- de Vries

    Increased smartphone use among minors makes our population more prone to electrical injury. Despite regulations on electrical home safety standards, smartphones and chargers still pose a risk for severe injury among users. We present a case of a patient with low-voltage electrical burns due to smartphone use in a bathtub. The 13-year-old Caucasian patient was using a smartphone plugged into the electrical grid while taking a bath. We report the burns and their treatment. We discuss the likely burn mechanism. Burn wounds after electrical injury due to smartphone use are rare. The presented case shows the danger of smartphone use in bathtubs.

    更新日期:2019-11-28
  • Adult T-type lymphoblastic lymphoma presenting as hypercalcemic crisis and aplastic anemia: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-10-08
    Mickael Essouma; Dorothée M. Soh; Mazou N. Temgoua; Ronald M. Gobina; Aristide T. Nono; Etienne Olivier Atenguena; Mahamat Maimouna; Gloria E. Ashuntantang

    Hypercalcemia and aplastic anemia are two uncommon presentations of non-Hodgkin lymphoma that potentially worsen the disease prognosis. Although hypercalcemia has been reported in the B-cell subtypes and some T-cell subtypes of non-Hodgkin lymphoma, it has not been described in T-cell lymphoblastic lymphoma. The same applies to aplastic anemia, which is also not described in T-type lymphomas. We report a case of a 52-year-old Cameroonian man with acute kidney injury who presented with confusion, abdominal pain, constipation, polyuria, polydipsia, calciphylaxis, enlarged lymph nodes, tachycardia, and a blood pressure of 170/88 mmHg. Laboratory investigations revealed hypercalcemia (total/ionized 199.5/101.75 mg/L), normal serum phosphorus (40.20 mg/L), and a low intact parathyroid hormone (9.70 pg/ml). Complete blood count revealed pancytopenia. Peripheral blood smear confirmed thrombocytopenia but showed neither blasts nor flower cells. Bone marrow aspirate revealed hypocellularity with no blasts or fibrosis. Lymph node biopsy was suggestive of T-cell precursor lymphoma. T-lymphoblastic lymphoma presenting with hypercalcemic crisis and aplastic anemia was diagnosed, and the patient received the cyclophosphamide-doxorubicin-vincristine-prednisone protocol of chemotherapy together with filgrastim and whole-blood transfusion for aplastic anemia. The short-term outcome was fatal, however. Severe hypercalcemia and aplastic anemia are potential paraneoplastic syndromes of adult T-type lymphoblastic lymphoma, with fatal short-term outcome.

    更新日期:2019-11-28
  • Acute inferior ST-elevation myocardial infarction due to delirium tremens: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-10-09
    Maxwell D. Mirande; George Kubac; Anh T. Nguyen

    Delirium tremens is a severe form of alcohol withdrawal syndrome. Literature documenting acute coronary events in the setting of alcohol withdrawal remains scarce. An accepted hypothesis for the underlying process is focused on the hyperadrenergic state that leads to coronary vasospasm and increased myocardial oxygen demand. A 47-year-old Caucasian man with a past medical history of tobacco and alcohol abuse, hypertension, and anxiety presented to the emergency department for crampy epigastric abdominal pain with intractable nausea and vomiting for the past 2 days. His reported last alcoholic intake was about 10 days prior; however, outpatient records indicated otherwise. He was admitted for electrolyte replacement and fluid resuscitation secondary to gastrointestinal losses from presumed early alcohol withdrawal syndrome. The following night, he developed acute substernal chest pain with elevated cardiac enzymes. Electrocardiography showed an acute inferoposterior infarct with reciprocal changes in leads V1–V4. The patient was taken for emergent catheterization, and a drug-eluting stent was placed in the middle of the left anterior descending artery. Postcatheterization electrocardiography showed sustained inferolateral ST elevations consistent with acute injury pattern. The patient had not required any benzodiazepines until this point. On the morning of catheterization, the patient’s Clinical Institute Withdrawal Assessment for Alcohol–Revised score was 19 with a high of 25, and he was actively hallucinating. He was treated for delirium tremens and an acute coronary event along with an incidental pneumonia. He did not require any benzodiazepines during the last 4 days of admission, and he made a full recovery. The prevalence of alcohol dependence in hospitalized patients is substantial. Although our patient was being treated with the standard protocols for alcohol withdrawal, he rapidly developed delirium tremens, which led to an acute inferior ST-elevation myocardial infarction in the setting of nonoccluded coronary vessels. This case report adds to the sparse literature documenting acute coronary events in the setting of alcohol withdrawal and suggests that our patient’s ST-elevation myocardial infarction is not fully explained by the current coronary vasospasm hypothesis, but rather was in part the result of direct catecholamine-associated myocardial injury. Further research should be conducted on prophylactic agents such as β-blockers and calcium channel blockers.

    更新日期:2019-11-28
  • Transcatheter occlusion of giant congenital coronary cameral fistulae: a case series
    J. Med. Case Rep. (IF 0) Pub Date : 2019-10-10
    Deogratias A. Nkya; Greenwood Sinyangwe; Farirai Fani Takawira

    A coronary cameral fistula is a rare connection between a coronary artery and a cardiac chamber or vein bypassing the cardiac capillary bed system. Most of these fistulae are congenital and solitary, although they can be acquired and multiple. Case 1: A 10-year-old black South African boy presented with a long-standing history of fatigue; he had a heart murmur, and a bounding pulse and wide pulse pressure. An echocardiogram demonstrated a large coronary cameral fistula involving his left coronary artery and his left ventricle. This was also confirmed on ascending aortogram. Surgical ligation was done and his symptoms improved afterward, but a small residual fistula remained. Case 2: A 7-year-old black South African boy had decreased effort tolerance and a heart murmur on the mid-sternal border. He had cardiomegaly on chest roentgenogram and a dilated left coronary artery origin on echocardiogram. An ascending aortogram confirmed a large left coronary cameral fistula draining to the left ventricle. Case 3: A 28-year-old black South African woman with decreased effort tolerance and chest pain on exertion had a continuous murmur over the lower sternal border. Echocardiography demonstrated a dilated right coronary artery with a fistulous connection to her right ventricle. An ascending aortogram demonstrated a tortuous coronary cameral fistula arising from her right coronary artery to her right ventricle. All three patients were successfully treated percutaneously using the Amplatzer vascular plug type II device. The availability of numerous vascular closure devices has made transcatheter occlusion the treatment of choice for the majority of coronary cameral fistulae, rather than the traditional surgical ligation.

    更新日期:2019-11-28
  • Treatment of lumbar vertebra epithelioid hemangioma with radiation therapy: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-10-15
    Aldis P. Siltumens; Na L. Smith; Rosalind F. Sharain; Michael G. Haddock; W. Michael Hooten

    Although epithelioid hemangiomas involving bone have been described in previous case reports and case series, the effects of radiation therapy on vertebral epithelioid hemangioma has not been fully reported. Here we provide a case report of tumor response to radiation therapy in a young adult with a large epithelioid hemangioma involving the fourth lumbar vertebrae. A 27-year-old Latino man with a past medical history of type 1 diabetes and a 3-year history of low back pain presented to a hospital emergency department following acute worsening of back pain. On transfer to our tertiary medical center, he described the pain as “shock-like” which originated at the lateral aspect of his right hip and radiated down to his right knee. Paresthesia was also reported along the medial aspect of his lower right leg. Imaging included a computed tomography scan and magnetic resonance imaging which revealed fourth lumbar and right iliac lytic bone lesions. Image-guided biopsies of the lytic lesions were consistent with a diagnosis of epithelioid hemangioma and radiation therapy was recommended as the primary treatment. Our patient’s low back and leg pain were initially managed with acetaminophen, oxycodone, pregabalin, and lidocaine patch 5%. He noted improvement in pain after his third fraction of radiation. Pain intensity continued to decline and oxycodone was discontinued. This case report demonstrates an unusual etiology of back and leg pain in a young man and elucidates the palliative effects of radiation therapy for epithelioid hemangioma involving the lumbar spine.

    更新日期:2019-11-28
  • Macrophage activation syndrome, a rare complication of primary Sjögren’s syndrome: a case report
    J. Med. Case Rep. (IF 0) Pub Date : 2019-10-16
    B. S. Kane; M. Niasse; A. Faye; N. D. Diack; B. Djiba; M. Dieng; M. Sow; A. C. Ndao; N. Diagne; S. Ndongo; A. Pouye

    The association of macrophage activation syndrome and primary Sjögren’s syndrome has been rarely reported in the literature. We report the first observation of this association in Africa, south of the Sahara, and we discuss the diagnosis and therapeutic challenge. A 26-year-old Mauritanian and Berber woman was followed for primary Sjögren’s syndrome. After a voluntary cessation of her usual background treatment, she was admitted to our department for an outbreak of her illness. A clinical examination revealed anemic syndrome, peripheral polyarthritis, coughing rales at both pulmonary bases, and fever at 39.5 °C. On biologic examination, there was bicytopenia with anemia at 5.70 g/dl, lymphopenia at 796/mm3, a biological inflammatory syndrome with a sedimentation rate at 137 mm in the first hour, C-reactive protein at 97 mg/l, hyperferritinemia at 1778 mg/l (9 normal value), and hypergammaglobulinemia at 20.7 g/l of polyclonal appearance. The triglycerides were 1.95 g/l (1.4 normal value) and the lactate dehydrogenase level was 491 IU/l (1.5 normal value). Cytological examination of a medullary puncture revealed an image of hemophagocytosis. An infectious screening was negative. Thoracic computed tomography showed non-specific interstitial lung disease. A diagnosis of macrophage activation syndrome complicating primary Sjögren’s syndrome was selected with a probability of 97.2%, according to H-Score. The evolution was favorable under a treatment including etoposide (VP-16). Macrophage activation syndrome is a rare entity, rarely reported during primary Sjögren’s syndrome. Its spontaneous evolution is invariably fatal. There is no consensus on therapeutic treatment. Etoposide is a therapeutic option especially in forms refractory to corticosteroid therapy.

    更新日期:2019-11-28
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