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, modera te 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 deg eneration. Muscle biopsies showed neurogenic atrophy. The Andermann sy ndrome is autosomal recessive and almost exclusively confined to the r egion of Charlevoix and Saguenay-Lac-St-Jean (Quebec, Canada), Moreove r in families with the Andermann syndrome, no siblings with only agene sis of the corpus callosum have been described.