Peripheral neuropathy detected on electrophysiological study as first manifestation of metachromatic leucodystrophy in infancy.
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.
D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000209:etiology; D003937:Diagnosis, Differential; D004576:Electromyography; D004594:Electrophysiology; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis / Q000209:etiology; D009431:Neural Conduction; D013127:Spinal Nerves / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology*