Infantile neuroaxonal dystrophy

A. Galil, R. Schiffmann, Z. Neeman, B. Porter

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)387-390, 435
JournalHarefuah
Volume123
Issue number10
StatePublished - 1 Jan 1992
Externally publishedYes

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