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PubMed · 1464383

[Infantile neuroaxonal dystrophy].

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

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BiopsyChild, PreschoolDementiaHumansMaleNervous System DiseasesNystagmus, PathologicSkinSural NerveCase ReportsEnglish AbstractJournal Article

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A Galil, R Schiffmann, Z Neeman, B Porter. 1992-11-15. [Infantile neuroaxonal dystrophy].. https://pubmed.ncbi.nlm.nih.gov/1464383/

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