Hereditary sensory neuropathy with deafness: a familial multisystem atrophy

We report a 39-year-old woman with hereditary sensory neuropathy-type I (HSN-I) and deafness--Hicks' disease. The cochlea showed cell loss in the organ of Corti, and spiral ganglia and atrophy of acoustic nerves. Morphometric and quantitative studies of the ventral cochlear nucleus disclosed mild changes resulting from transynaptic atrophy. There was, however, neuronal as well as severe dendritic loss and gliosis in the auditory and sensory cortex that could not have been caused by their functional deprivation or have resulted from a chain reaction of transynaptic atrophy, since their corresponding lower relay nuclei did not display significant atrophy. The finding of cell loss and gliosis in the thalamus in nuclei that do not subserve these two pathways as well as in the red nuclei, inferiro olivary nuclei, and claustrum suggested that HSN-I with deafness is nosologically related to familial multisystem atrophy.