Two cases of Infantile Neuroaxonal Dystrophy in male siblings were reported. Their parents had consanguinity. In both cases, their development during infancy was normal. At about one year of age, the patients began to show gradual regression in motor performance. They were admitted to the hospital at the age of 31/12 and 31/2 years, respectivly. On admission, they showed almost similar neurological findings: Poor spontaneous movements, generalized hypotonia and diminished tendon reflexes, which were marked in the lower limbs, bilateral optic atrophies, diminished response to pinprick. No convulsions were noted.
The laboratory data showed slight elevation of GOT and LDH in cerebrospinal fluid and serum. The electroencephalograms showed background of continuous diffuse irregular fast activity. The pneumoencephalograms showed the enlarged fourth ventricle and cisterna magna.
In case 1, the biopsy of cerebral cortex was performed, and pale eosinop hilic bodies were seen in gray matter structures.
In case 2, there was no clinical response to perioral administration of large dosage of vitamin E although there are reports suggesting vitamin E deficiency in this disease. The pathological examina tion revealed numerous spheroids in tegmentum of the brain stem and posterior horn of the spinal cord, and abundant pale eosinophilic bodies in the cerebral cortex, basal ganglia, thalamus and hypothalamus.
