Kieslich M, Vecchi M, Driever P H, Laverda A M, Schwabe D, Jacobi G
Department of Paediatrics, Paediatric Neurology, Johann Wolfgang Goethe University, Frankfurt, Germany.
Dev Med Child Neurol. 2001 Aug;43(8):555-8. doi: 10.1017/s0012162201001001.
Haemophagocytic lymphohistiocytosis (HLH) is characterized anatomically by an infiltration of multiple tissues with lymphocytes and haemophagocytic histiocytes. First symptoms are usually hepatosplenomegaly, pancytopenia, and intractable fever. Up to 73% of those with HLH develop CNS involvement during the disease course. The peculiarity of the two patients presented here, a 20-month-old Italian female and a 4-year-old Moroccan female, is that the initial presenting neurological symptoms mimicked an encephalitis, anticipating the typical systemic symptoms by 1 and 4 months. They developed progressive encephalopathy accompanied by status epilepticus, one child developed a secondary hydrocephalus. In both children it was not possible to detect an underlying infection or malignant disease and there were no other cases in the family that suggested a familial form of HLH. Diagnosis and initiation of treatment was delayed because of the initial encephalopathic clinical picture and the late onset of the typical systemic features. As early diagnosis allows better therapeutical approaches, haemophagocytic lymphohistiocytosis should be considered in children with persistent or progressive findings of encephalopathy, especially in the absence of identification of a plausible pathogen.
噬血细胞性淋巴组织细胞增生症（HLH）在解剖学上的特征是多个组织被淋巴细胞和噬血细胞性组织细胞浸润。最初症状通常为肝脾肿大、全血细胞减少和顽固性发热。高达73%的HLH患者在病程中会出现中枢神经系统受累。这里介绍的两名患者，一名20个月大的意大利女性和一名4岁的摩洛哥女性，其特殊之处在于最初出现的神经系统症状类似脑炎，比典型的全身症状提前1个月和4个月出现。她们出现了进行性脑病并伴有癫痫持续状态，其中一名儿童继发了脑积水。在这两名儿童中，均未检测到潜在感染或恶性疾病，且家族中没有其他病例提示为家族性HLH。由于最初的脑病临床表现以及典型全身特征出现较晚，诊断和治疗的启动被延迟。由于早期诊断可采用更好的治疗方法，对于有持续性或进行性脑病表现的儿童，尤其是在未发现合理病原体的情况下，应考虑噬血细胞性淋巴组织细胞增生症。
