title: Peripheral neuropathy--a novel finding in dyskeratosis congenita.
abstract: 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.
authors.affiliation: Dubowitz Neuromuscular Centre, Department of Paediatrics and Neonatal Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.
authors.forename: Patrick
authors.initials: P
authors.lastname: Ip
authors.forename: Ravi
authors.initials: R
authors.lastname: Knight
authors.forename: Inderjeet
authors.initials: I
authors.lastname: Dokal
authors.forename: Adnan Y
authors.initials: AY
authors.lastname: Manzur
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D019871:Dyskeratosis Congenita / Q000150:complications*; D006801:Humans; D008297:Male; D009431:Neural Conduction / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology