Abstract
We describe an atypical case of juvenile metachromatic leukodystrophy. Motor conduction velocity was still within the normal range 3 years after clinical onset, in contrast to what is commonly found in this disease. Another unusual feature is the normal level of CSF protein. These data are discussed in the light of the sural nerve biopsy findings, which revealed only slight impairment.
Sommario
Gli autori descrivono un caso atipico di Leucodistrofia Metacromatica di tipo giovanile. A 3 anni di distanza dall'esordio clinico la VdC motoria è risultata ancora nella norma, in contrasto con quanto comunemente osservabile in tale patologia. Altro dato inusuale è la normalità del livello delle proteine nel CFS. Tali dati vengono discussi anche alla luce dei risultati della biopsia di nervo surale, che rivela solo modesta compromissione.
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Zambrino, C.A., Balottin, U., Minelli, A. et al. Metachromatic leukodystrophy: On an atypical case. Ital J Neuro Sci 13, 617–619 (1992). https://doi.org/10.1007/BF02233408
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DOI: https://doi.org/10.1007/BF02233408