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.