Backgrounds

Hemophagocytic lymphohistiocytosis (HLH) is a rare and fatal disease, and may also present with central nervous system findings at the beginning without specific diagnostic criteria. Brain magnetic resonance imaging (MRI) findings are diverse, also can be diagnostic.We aimed to emphasize the importance of brain MRI findings in the early diagnosis of this fatal disease.

Methods

MRI findings, clinical presentations, treatment response, and prognosis of seven patients with HLH were described.

Results

There were seven pediatric patients who were initially diagnosed with HLH with neurological findings without systemic signs of HLH. Four as primary, two as secondary, and one of them were diagnosed as possible primary HLH. All patients had contrast-enhancing diffuse cerebellar and brainstem lesions; patchy periventricular and callosal cerebral lesions were observed. Thalamus involvement was found in three (42.8%), corpus callosum involvement in six (85.7%), and cervical spinal involvement in one (14.2%). The patients were followed up with these MRI findings, with pre-diagnoses of toxic, metabolic, infectious, vascular, and demyelinating diseases. Not all patients met the HLH diagnostic criteria due to incomplete systemic/laboratory findings; therefore, only two were immediately directed for hematopoietic stem cell therapy. Four died shortly after admission, one patient could not be followed up after HLH treatment, two patients who fulfilled the HLH diagnostic criteria underwent hematopoietic stem cell transplantation and survived.

Conclusions

Brain MRI findings, especially in the presence of neurologic findings, allow for early diagnosis, which can be life-saving.These common features in brain MRI findings should be evaluated with this suspicion and included in HLH diagnostic criteria.

中文翻译：

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小儿噬血细胞性淋巴组织细胞增多症的脑磁共振成像结果可用于诊断和挽救生命

背景

噬血细胞性淋巴组织细胞增多症 (HLH) 是一种罕见且致命的疾病，在没有特定诊断标准的情况下，也可能在开始时出现中枢神经系统表现。脑磁共振成像 (MRI) 发现多种多样，也可以进行诊断。我们旨在强调脑 MRI 发现在这种致命疾病的早期诊断中的重要性。

方法

描述了 7 名 HLH 患者的 MRI 结果、临床表现、治疗反应和预后。

结果

有 7 名儿科患者最初被诊断为 HLH，其神经系统检查结果没有 HLH 的全身症状。四个为原发性，两个为继发性，其中一个被诊断为可能的原发性 HLH。所有患者均有对比增强弥漫性小脑和脑干病变；观察到斑片状的脑室周围和胼胝体病变。丘脑受累3例（42.8%），胼胝体受累6例（85.7%），颈椎受累1例（14.2%）。对这些患者进行了 MRI 随访，初步诊断出毒性、代谢、感染、血管和脱髓鞘疾病。由于系统/实验室检查结果不完整，并非所有患者都符合 HLH 诊断标准；因此，只有两人立即接受了造血干细胞治疗。

结论

脑 MRI 发现，特别是在存在神经系统发现的情况下，可以进行早期诊断，这可以挽救生命。脑 MRI 发现中的这些常见特征应根据这种怀疑进行评估，并将其包括在 HLH 诊断标准中。