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Imaging in children with ataxia-telangiectasia—The radiologist’s approach
Frontiers in Pediatrics ( IF 2.1 ) Pub Date : 2022-09-16 , DOI: 10.3389/fped.2022.988645
Katarzyna Jończyk-Potoczna 1 , Jakub Potoczny 2 , Aleksandra Szczawińska-Popłonyk 3
Affiliation  

Ataxia-telangiectasia (A-T) is a syndromic inborn error of immunity (IEI) characterized by genomic instability, defective reparation of the DNA double-strand breaks, and hypersensitivity to ionizing radiation disturbing cellular homeostasis. The role of imaging diagnostics and the conscious choice of safe and advantageous imaging technique, as well as its correct interpretation, are crucial in the diagnostic process and monitoring of children with A-T. This study aimed at defining the role of a radiologist in the early diagnosis of A-T, as well as in detecting and tracking disease complications associated with infections, inflammation, lymphoproliferation, organ-specific immunopathology, and malignancy. Based on our single-center experience, retrospective analysis of investigations using ionizing radiation-free techniques, ultrasound (US), and Magnetic Resonance Imaging (MRI), was performed on regularly followed-up 11 pediatric A-T patients, 6 girls and 5 boys, aged from 2 to 18 years, with the longest period of observation coming to over 13 years. Our attention was especially drawn to the abnormalities that were observed in the US and MRI examinations of the lungs, abdominal cavity, and lymph nodes. The abdominal US showed no abnormalities in organ dimensions or echostructure in 4 out of 11 children studied, yet in the other 7, during follow-up examinations, hepato- and/or splenomegaly, mesenteric, visceral, and paraaortic lymphadenopathy were observable. In 2 patients, focal changes in the liver and spleen were shown, and in one patient progressive abdominal lymphadenopathy corresponded with the diagnosis of non-Hodgkin lymphoma (NHL). The lung US revealed multiple subpleural consolidations and B line artifacts related to the interstitial-alveolar syndrome in 5 patients, accompanied by pleural effusion in one of them. The MRI investigation of the lung enabled the detection of lymphatic nodal masses in the mediastinum, with concomitant airway lesions characteristic of bronchiectasis and focal parenchymal consolidations in one A-T patient with chronic respiratory failure. This patient also manifested organomegaly and granulomatous liver disease in abdominal MRI examination. Our study shows that the use of modern US capabilities and MRI is safe and efficient, thereby serving as a recommended advantageous imaging diagnostic tool in monitoring children with IEI and DNA instability syndromes.



中文翻译:

共济失调毛细血管扩张症儿童的影像学检查——放射科医生的方法

共济失调-毛细血管扩张症 (AT) 是一种先天性免疫缺陷综合征 (IEI),其特征是基因组不稳定、DNA 双链断裂修复缺陷以及对电离辐射的超敏反应扰乱细胞稳态。影像诊断的作用和有意识地选择安全和有利的影像技术,以及正确的解释,对于 AT 儿童的诊断过程和监测至关重要。本研究旨在确定放射科医师在 AT 早期诊断中的作用,以及检测和跟踪与感染、炎症、淋巴增殖、器官特异性免疫病理学和恶性肿瘤相关的疾病并发症。根据我们的单中心经验,对使用无电离辐射技术、超声(美国)的调查进行回顾性分析,对 11 名儿童 AT 患者进行定期随访,其中 6 名女孩和 5 名男孩,年龄 2 至 18 岁,最长观察期超过 13 年。我们特别注意在美国和肺部、腹腔和淋巴结的 MRI 检查中观察到的异常情况。在研究的 11 名儿童中,有 4 名的腹部超声显示器官尺寸或回声结构没有异常,但在另外 7 名儿童中,在随访检查中,可观察到肝和/或脾肿大、肠系膜、内脏和主动脉旁淋巴结肿大。2 名患者出现肝脏和脾脏局灶性改变,1 名患者进行性腹部淋巴结肿大符合非霍奇金淋巴瘤 (NHL) 的诊断。肺部超声显示 5 例患者的多处胸膜下实变和与间质肺泡综合征相关的 B 线伪影,其中 1 例伴有胸腔积液。肺部的 MRI 检查能够检测到纵隔中的淋巴结肿块,同时在一名患有慢性呼吸衰竭的 AT 患者中伴有支气管扩张和局灶性实质实变的气道病变特征。该患者在腹部MRI检查中还表现出器官肿大和肉芽肿性肝病。我们的研究表明,使用现代美国能力和 MRI 是安全有效的,因此可作为推荐的有利影像诊断工具,用于监测患有 IEI 和 DNA 不稳定综合征的儿童。其中一名患者伴有胸腔积液。肺部的 MRI 检查能够检测到纵隔中的淋巴结肿块,同时在一名患有慢性呼吸衰竭的 AT 患者中伴有支气管扩张和局灶性实质实变的气道病变特征。该患者在腹部MRI检查中还表现出器官肿大和肉芽肿性肝病。我们的研究表明,使用现代美国能力和 MRI 是安全有效的,因此可作为推荐的有利影像诊断工具,用于监测患有 IEI 和 DNA 不稳定综合征的儿童。其中一名患者伴有胸腔积液。肺部的 MRI 检查能够检测到纵隔中的淋巴结肿块,同时在一名患有慢性呼吸衰竭的 AT 患者中伴有支气管扩张和局灶性实质实变的气道病变特征。该患者在腹部MRI检查中还表现出器官肿大和肉芽肿性肝病。我们的研究表明,使用现代美国能力和 MRI 是安全有效的,因此可作为推荐的有利影像诊断工具,用于监测患有 IEI 和 DNA 不稳定综合征的儿童。在一名患有慢性呼吸衰竭的 AT 患者中,伴有支气管扩张和局灶性实质实变的气道病变特征。该患者在腹部MRI检查中还表现出器官肿大和肉芽肿性肝病。我们的研究表明,使用现代美国能力和 MRI 是安全有效的,因此可作为推荐的有利影像诊断工具,用于监测患有 IEI 和 DNA 不稳定综合征的儿童。在一名患有慢性呼吸衰竭的 AT 患者中,伴有支气管扩张和局灶性实质实变的气道病变特征。该患者在腹部MRI检查中还表现出器官肿大和肉芽肿性肝病。我们的研究表明,使用现代美国能力和 MRI 是安全有效的,因此可作为推荐的有利影像诊断工具,用于监测患有 IEI 和 DNA 不稳定综合征的儿童。

更新日期:2022-09-16
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