1998 Volume 41 Issue 5 Pages 379-385
A 30-year-old woman developed insulin-dependent diabetes mellitus (IDDM) at the age of 7 years. Optic nerve atrophy was confirmed at age 9, leading to a diagnosis of Wolfram syndrome. The patient had been treated with insulin but her glycemic control had only been fair. In May 1996, she was admitted to our hospital because of frequent dizziness. Clinical examination revealed optic nerve atrophy and preproliferative diabetic retinopathy in her eye grounds, a diminished Achilles tendon reflex and vibratory sensation, orthostatic hypotension, and neurogenic bladder. There was no evidence of hearing loss or diabetes insipidus. Laboratory did not reveal mitochondrial 3243 mutation, which may be one of factors in the etiology of the syndrome, and GAD antibody was not detected. An EEG did not show any abnormal findings. Magnetic resonance imaging (MRI) showed definite atrophy in the brain stem and the cerebellum. There has been only one other report of Wolfram syndrome with brain stem atrophy in Japan. Since a report in the U. K. stated that the cause of death in one third of the cases of this syndrome was central respiratory failure due to brain stem atrophy, the central nervous system of patients with this syndrome should be examined by MRI.
