[Infantile neuroaxonal dystrophy].
Infantile neuroaxonal dystrophy is a degenerative disease, mostly of nerve endings in the central and peripheral nervous system, with typical pathological findings. We describe a 3-year-old boy who had suffered from nystagmus, progressive muscle weakness and dementia since the age of 10 months. Biochemical work-up, MRI of the brain, and electrophysiological studies were within normal limits. Only skin biopsy, and sural nerve biopsy at a later stage, were diagnostic. We stress the importance of performing tissue biopsy even when intensive investigation is negative.
Galil
A
A
Child Development Center, Soroka Medical Center, Beer Sheba.
Schiffmann
R
R
Neeman
Z
Z
Porter
B
B
D001706:Biopsy; D002675:Child, Preschool; D003704:Dementia / Q000209:etiology; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D009759:Nystagmus, Pathologic / Q000209:etiology; D012867:Skin / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology