两名患有遗传性感觉神经病变异型的兄弟。
Two brothers with a variant of hereditary sensory neuropathy.
作者信息
Pavone L, Huttenlocher P, Siciliano L, Micali G, Rizzo R, Anastasi M, Maimone D, Woolmann R
机构信息
Department of Pediatrics, University of Catania, Italy.
出版信息
Neuropediatrics. 1992 Apr;23(2):92-5. doi: 10.1055/s-2008-1071319.
PMID:1376446
Abstract
We report two brothers with the clinical symptoms and neuropathological findings of hereditary sensory and autonomic neuropathy (HSAN) type IV but with normal sweating function and absence of recurrent fever. We propose that our patients may have a lower degree of expression of the genetic defect underlying HSAN type IV or that they represent a separate genetic entity.
摘要
我们报告了两兄弟，他们具有遗传性感觉和自主神经病变（HSAN）IV型的临床症状和神经病理学表现，但出汗功能正常且无反复发热。我们认为，我们的患者可能具有IV型HSAN潜在遗传缺陷的较低表达程度，或者他们代表一种独立的遗传实体。
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