Quinlivan R M, Robb S A, Hall S M, Honavar M, Hughes R A, Dubowitz V
Department of Paediatrics, UMDS, Guy's Hospital, London, U.K.
Neuromuscul Disord. 1994 May;4(3):227-32. doi: 10.1016/0960-8966(94)90023-x.
Two siblings presented with a recurrent axonal neuropathy associated with intercurrent infection. One child had mild global developmental delay. The CSF was normal and haematological and biochemical tests failed to reveal a metabolic disorder. Nerve conduction studies in both children showed a mixed sensory and motor axonal neuropathy. Sural nerve biopsies showed severe ongoing axonal degeneration. At post mortem examination peripheral nerves showed widespread axonal loss with a marked reduction of anterior horn and posterior root ganglion cells. Mild diffuse endoneurial cell inflammation was present in the peripheral nerves and some posterior roots. We believe that these siblings died from a genetically determined axonal neuropathy with central nervous system involvement.
两名兄弟姐妹出现了与并发感染相关的复发性轴索性神经病。其中一名儿童有轻度的全面发育迟缓。脑脊液正常，血液学和生化检查未发现代谢紊乱。两名儿童的神经传导研究均显示感觉和运动混合性轴索性神经病。腓肠神经活检显示严重的进行性轴索变性。尸检时，周围神经显示广泛的轴索丧失，前角和后根神经节细胞明显减少。周围神经和一些后根存在轻度弥漫性神经内膜细胞炎症。我们认为，这些兄弟姐妹死于一种具有中枢神经系统受累的遗传性轴索性神经病。
