Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome

In a neonatal case of infantile neuroaxonal dystrophy, there was emaciation, nystagmus, and endocrinologic disorder suggesting the diencephalic syndrome. At autopsy, spheroid bodies were widely disseminated, particularly in the hypothalamus, infundibulum, and neurohypophysis. The pathologic process may have started in utero.