[A case with hereditary motor and sensory neuropathy with multiple cranial nerves involvement]

We described a 62-year-old man presenting motor and sensory neuropathy with multiple cranial nerve involvement. He was admitted to our hospital for visual loss and gait disturbance. Visual disturbance appeared at age of 32 and have slowly progressed until admission. At age of 55, he noticed walking difficulty, which has progressed. On neurological examinations we found cranial nerve disturbance including the 2nd, 3rd, 4th, 5th, 6th, 7th and 12th nerves. Muscle atrophy and sensory disturbance were observed in four limbs, most strikingly at the distal lower limbs. The electromyographic study indicated chronic denervation in four limbs. The histological examination on sural nerve biopsy specimens showed neuronal type degeneration accompanied with a severe loss of myelinated fibers and proliferation of perineurial cells in this nerve. We diagnosed the present case as HMSN type 6 documented by Dyck. To our knowledge, the present case has been the initial case accompanied with multiple cranial nerve involvements.