Takahashi S, Oki J, Miyamoto A, Koyano S, Ito K, Azuma H, Okuno A
Department of Paediatrics, Asahikawa Medical College, Japan.
Eur J Pediatr. 1999 Feb;158(2):133-7. doi: 10.1007/s004310051033.
A 2-year-old Japanese boy with a haemophagocytic lymphohistiocytosis (HLH) associated encephalopathy which developed after rotavirus infection is described. The neurological symptoms consisted of coma, seizures and spastic quadriplegia. On therapy with steroids, etoposide and cyclosporin A, the patient recovered without any neurological deficits. The interferon-gamma levels in serum and CSF were elevated at onset of the disease but had returned to normal at the time of clinical remission. Brain MRI revealed diffuse white matter abnormalities and parenchymal volume loss. Proton magnetic resonance spectroscopy revealed elevated lactate in the abnormal lesions observed on MRI, indicating that macrophages not exhibiting aerobic metabolism had infiltrated the CNS. At the time of clinical remission, the white matter abnormalities and brain lactate had disappeared. These findings suggested that the neurological symptoms resulted from the overproduction of cytokines by activated T-cells and macrophages. The pathophysiology of a HLH associated encephalopathy was considered to be a local immune response within the CNS, because interferon-gamma can induce the expression of major histocompatibility complex class I and II antigens on glial cells in the CNS.
Haemophagocytic lymphohistiocytosis associated encephalopathy should be considered early in the differential diagnosis of cases with acute onset neuropathy.
本文描述了一名2岁日本男孩，其在轮状病毒感染后发生了噬血细胞性淋巴组织细胞增生症（HLH）相关脑病。神经症状包括昏迷、癫痫发作和痉挛性四肢瘫。在接受类固醇、依托泊苷和环孢素A治疗后，患者康复且无任何神经功能缺损。疾病发作时血清和脑脊液中的干扰素-γ水平升高，但在临床缓解时已恢复正常。脑部MRI显示弥漫性白质异常和实质体积减小。质子磁共振波谱显示在MRI观察到的异常病变中乳酸升高，表明未表现出有氧代谢的巨噬细胞已浸润中枢神经系统。在临床缓解时，白质异常和脑乳酸消失。这些发现提示神经症状是由活化的T细胞和巨噬细胞过度产生细胞因子所致。HLH相关脑病的病理生理学被认为是中枢神经系统内的局部免疫反应，因为干扰素-γ可诱导中枢神经系统中胶质细胞上主要组织相容性复合体I类和II类抗原的表达。
在急性起病神经病病例的鉴别诊断中，应早期考虑噬血细胞性淋巴组织细胞增生症相关脑病。
