Juvenile onset metachromatic leucodystrophy. Failure of response on a low vitamin A diet.
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چکیده
منابع مشابه
The insidious presentation of the juvenile form of metachromatic leucodystrophy.
Certain progressive cerebral diseases can present with emotional and behavioural disorders. The juvenile form of metachromatic leucodystrophy is one of these. The histories of two children with this condition are given to demonstrate the insidious form of onset.
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Metachromatic leucodystrophy (MLD) is a lysosomal storage disease resulting from a deficiency of arylsulphatase A. We have identified a child with infantile onset MLD who is homozygous for an A212V mutation, a mutation previously reported but not further characterised. We have introduced this mutation into an arylsulphatase A expression vector by site directed mutagenesis. Transient expression ...
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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 کاملThe Diagnosis of Metachromatic Leucodystrophy during Life.
Metachromatic leucodystrophy is deserving an increasing interest from neurologists and pediatricians, mainly because it is the only disease in the whole group of diffuse cerebral sclerosis amenable to an intra vitam diagnosis by means of bloodless procedures. The merit for this belongs to Austin 1 , who introduced a simple test to demonstrate metachromatic bodies in the urine sediment. Although...
متن کاملInfantile Metachromatic Leucodystrophy.
Metachromatic leucodystrophy is an uncommon type of diffuse cerebral sclerosis. This condition is found at various ages, but it is convenient to classify cases into congenital, infantile, juvenile, and adult varieties. The infantile form, which presents a fairly constant clinical and pathological pattern, was first described by Greenfield (1933) who recorded two cases, and four further examples...
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عنوان ژورنال:
- Archives of disease in childhood
دوره 50 9 شماره
صفحات -
تاریخ انتشار 1975