title: Neuroaxonal dystrophy of neonatal onset with unusual clinicopathological findings.
abstract: A male infant with neuroaxonal dystrophy of neonatal onset is described. He was hypertonic, and exhibited horizontal nystagmus, occasional tremulous movements of the head and extremities, and an absence of waves III through V on auditory brain stem response examination. An autopsy at age 11 months revealed spheroid formation that was predominant in the cerebellum and brain stem, and dysmyelination that was mainly seen in the white matter of the cerebellum. This is in contrast with most of the previously reported patients of infantile neuroaxonal dystrophy in which these changes were evenly distributed throughout the central, peripheral and autonomic nervous systems.
mesh_terms: D001369:Axons / Q000473:pathology*; D002490:Central Nervous System / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis / Q000473:pathology*; D013577:Syndrome