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. 1975 Feb;38(2):169–174. doi: 10.1136/jnnp.38.2.169

Peripheral neuropathy detected on electrophysiological study as first manifestation of metachromatic leucodystrophy in infancy.

A C Martinez, M T Ferrer, E Fueyo, L Galdos
PMCID: PMC491881  PMID: 1151398

Abstract

A case of infantile metachromatic leucodystrophy is described in which symptoms started at 1 year of age with weakness and hypotonus in the lower extremities. The electrophysiological status was typical of a polyneuropathy, showing fibrillation and a reduction of the nerve conduction velocity to 30 percent of the average for normal children of the same age. Clinical signs of a central lesion and mental regression were not evident until a year later. Nerve biopsy showed metachromatic granules in the phagocytes and in the Schwann cells, confirming the diagnosis of metachromatic leucodystrophy. In peripheral neuropathy in infancy without obvious cause, a nerve biopsy is the most appropriate method for diagnosis of the metachromatic leucodystrophy.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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