Alport's syndrome and hereditary motor and sensory neuropathy type I : an unfortunate coincidence

A 15-year-old boy with Alport's syndrome and hereditary motor and sensory neuropathy type I is described. An association between hereditary motor and sensory neuropathy and a nephropathy has been reported in 12 cases in the literature. Although showing features in common with Alport's syndrome and with a familial tendency, these 12 cases are clinically and histologically distinct from our patient who is the unfortunate inheritor of two genetic disorders, one maternally and one paternally derived. Recognition of an association between nephropathy and neuropathy, although rare, is important.