Peripheral Nerve Conduction in Metachromatic Leukodystrophy (sulphatide Lipidosis).
نویسنده
چکیده
منابع مشابه
A preclinical case of late adult metachromatic leukodystrophy? Manifestation only with lipid abnormalities in urine, enzyme deficiency and decrease of nerve conduction velocity.
In a clinically unremarkable 39 year old sister of a patient afflicted with late adult metachromatic leukodystrophy, metachromatic deposits in the epithelial cells of the urine sediment, a high sulphatide excretion in the urine, and a deficiency of arylsulphatase A in urine and leucocytes were found. The motor nerve conduction velocity of the peripheral nerves in upper and lower extremities was...
متن کاملPeripheral neuropathy of metachromatic leucodystrophy: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide.
Peripheral nerve abnormalities in metachromatic leucodystrophy have been noted many times since Jacobi (1947) first reported metachromatic material in the sciatic nerve of her patient. The finding of metachromatic granules in a peripheral nerve biopsy, usually the sural nerve, has been recommended as a method of diagnosing this disease (Thieffry and Lyon, 1959; Hagberg, Sourander, and Thoren, 1...
متن کاملPeripheral 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 an...
متن کاملLate infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia
BACKGROUND This study was conducted to describe the clinical and genetic features of patients with late infantile metachromatic leukodystrophy. METHODS Clinical and genetic manifestations of five Taiwanese patients with late infantile metachromatic leukodystrophy from January 2003 to April 2014 were reviewed. The genetic features of such patients reported in Asian countries during a period of...
متن کاملLate onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.
Metachromatic leukodystrophy (MLD) rarely has its clinical onset in young adults, with a combination of cognitive and behavioural symptoms and peripheral neuropathy. Here we present an exceptional case with very late onset at 42 years of age and no clinical or neurophysiological sign of peripheral neuropathy. Molecular analysis revealed compound heterozygosity for two novel missense mutations a...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 27 شماره
صفحات -
تاریخ انتشار 1964