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  • Title: [Infantile neuroaxonal dystrophy].
    Author: Galil A, Schiffmann R, Neeman Z, Porter B.
    Journal: Harefuah; 1992 Nov 15; 123(10):387-90, 435. PubMed ID: 1464383.
    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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