Boutin B, Routon M C, Rocchiccioli F, Mayer M, Leverger G, Robain O, Ponsot G, Arthuis M
Département de Neurologie Pédiatrique, Hôpital Saint Vincent de Paul, Paris, France.
J Neurol Neurosurg Psychiatry. 1988 Feb;51(2):291-4. doi: 10.1136/jnnp.51.2.291.
A 12 year old patient who developed clinical, biochemical and histological features of erythrophagocytic lymphohistiocytosis is described. In contrast to previously reported cases, the prominent neurological feature was a subacute sensorimotor polyneuropathy. Sural nerve biopsy showed a marked reduction of myelinated fibres and severe axonal lesions, absence of histiocyte infiltration and deposits of IgM along the epineurium. In addition to the hypertriglyceridaemia previously described in this condition, an elevation of plasma very long-chain fatty acids and phytanic acid was found which suggests a transient impairment of peroxisomal functions.
本文描述了一名12岁患者，其出现了噬血细胞性淋巴组织细胞增生症的临床、生化和组织学特征。与先前报道的病例不同，突出的神经学特征是亚急性感觉运动性多神经病。腓肠神经活检显示有髓纤维明显减少和严重的轴索病变，无组织细胞浸润以及沿神经外膜的IgM沉积。除了此前在该病症中所描述的高甘油三酯血症外，还发现血浆中极长链脂肪酸和植烷酸升高，这提示过氧化物酶体功能存在短暂损害。
