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- W2017584393 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." @default.
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- W2017584393 date "1975-02-01" @default.
- W2017584393 modified "2023-09-26" @default.
- W2017584393 title "Peripheral neuropathy detected on electrophysiological study as first manifestation of metachromatic leucodystrophy in infancy." @default.
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- W2017584393 doi "https://doi.org/10.1136/jnnp.38.2.169" @default.
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