New form of autosomal-recessive axonal hereditary sensory motor neuropathy

被引：2

作者：

Eckhardt, SME

Hicks, EM

Herron, B

Morrison, PJ

Aicardi, J

机构：

[1] Great Ormond St Hosp Children, London WC1N 3JH, England

[2] Royal Hosp Sick Children, Belfast, Antrim, North Ireland

[3] Royal Hosp Trust, Reg Neuropathol Serv, Belfast, Antrim, North Ireland

[4] Belfast City Hosp, Belfast BT9 7AD, Antrim, North Ireland

来源：

PEDIATRIC NEUROLOGY | 1998年 / 19卷 / 03期

关键词：

D O I：

10.1016/S0887-8994(98)00042-3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Two siblings, a male and a female, had severe axonal neuropathy and sideroblastic anemia. Despite a distinct clinical picture with areflexia, ataxia, hypotonia, optic atrophy, and progressive sensory neural hearing loss, no definite diagnosis could be reached and the older sibling died at 6 years of age of respiratory failure. It is proposed that the two affected siblings have a new form of autosomal-recessive axonal hereditary sensory motor neuropathy. (C) 1998 by Elsevier Science Inc. All rights reserved.

引用

页码：234 / 235

页数：2

共 4 条

[1] ATYPICAL PRESENTATIONS OF PYRIDOXINE-DEPENDENT SEIZURES - A TREATABLE CAUSE OF INTRACTABLE EPILEPSY IN INFANTS [J].