Henter J I, Elinder G
Department of Paediatrics, Karolinska Institute, St Göran's Children's Hospital, Stockholm, Sweden.
Lancet. 1992 Jan 11;339(8785):104-7. doi: 10.1016/0140-6736(92)91008-v.
We describe 3 children with a progressive encephalopathy that was characterised by irritability, convulsions, cranial nerve palsies, ataxia, nystagmus, walking difficulties, delayed psychomotor development, hemiplegia/tetraplegia, visual disturbance, vomiting, neck stiffness, and non-specific signs of raised intracranial pressure. A final diagnosis was made in all 3 patients from necropsy material. The clinical features were ascribed to multiple inflammatory, predominantly lymphocytic, reactions and raised intracranial pressure. This condition is an atypical form of haemophagocytic lymphohistiocytosis, which normally presents with fever, hepatosplenomegaly, and cytopenias. By contrast, the disease pattern in our 3 children was dominated by cerebromeningeal involvement, which can precede the typical systemic symptoms of haemophagocytic lymphohistiocytosis. An awareness of this condition is important because treatments are available.
我们描述了3名患有进行性脑病的儿童，其特征为易激惹、惊厥、脑神经麻痹、共济失调、眼球震颤、行走困难、精神运动发育迟缓、偏瘫/四肢瘫、视觉障碍、呕吐、颈部强直以及颅内压升高的非特异性体征。所有3例患者均通过尸检材料做出了最终诊断。临床特征归因于多种炎症反应，主要是淋巴细胞反应以及颅内压升高。这种情况是噬血细胞性淋巴组织细胞增生症的一种非典型形式，该病通常表现为发热、肝脾肿大和血细胞减少。相比之下，我们这3名儿童的疾病模式以脑膜受累为主，这可能先于噬血细胞性淋巴组织细胞增生症的典型全身症状出现。认识到这种情况很重要，因为有相应的治疗方法。
