Familial Progressive Sensorimotor Neuropathy with Agenesis of the Corpus callosum (Andermann Syndrome): A Clinical, Neuroradiological and Histopathological Study

Three siblings from consanguineous parents, originating from Tanzania, presented with symptoms of complete or partial agenesis of the corpus callosum. Two males had in addition a sensorimotor neuropathy, moderate mental retardation and skeletal dysmorphism (Andermann syndrome). A study of sural nerve biopsies revealed thickening of the perineurium and reduction in the number of large myelinated fibres with axonal degeneration. Muscle biopsies...