Peripheral neuropathy - a novel finding in dyskeratosis congenita

被引：9

作者：

Ip, P

Knight, R

Dokal, I

Manzur, AY

Muntoni, F ^{[1
]}

机构：

[1] Hammersmith Hosp, Imperial Coll London, Dept Paediat & Neonatal Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England

[2] Hammersmith Hosp, Imperial Coll London, Dept Haematol, London, England

[3] Univ Hong Kong, Queen Mary Hosp, Dept Paediat & Adolescent Med, Div Neurodev Paediat, Hong Kong, Hong Kong, Peoples R China

来源：

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | 2005年 / 9卷 / 02期

关键词：

peripheral neuropathy; delayed myelination; dyskeratosis congenita; cerebellar ataxia;

D O I：

10.1016/j.ejpn.2005.01.007

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report the case of a 3.5-year-old boy who presented with truncal ataxia, microcephaly and delayed global development in infancy. Hypoplasia of cerebellum and corpus callosum and delayed myelination were found on brain MRI. Failure to thrive, sparse hairs and dystrophic nails became evident at the age of 2 years. He subsequently developed bleeding tendency, thrombocytopenia and hypocellularity on bone marrow examination leading to a diagnosis of dyskeratosis congenita. Impaired pain perception with slowing of nerve conduction velocities was demonstrated, suggesting a mild peripheral neuropathy. To the best of our knowledge, peripheral neuropathy has never been reported as a feature of the congenital form of dyskeratosis congenita. (c) 2005 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

引用

页码：85 / 89

页数：5