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A variant form of metachromatic leucodystrophy in a patient suffering from another congenital degenerative neurological disease
Author(s) -
Nordenbo Annette Mosbæk,
Tonnesen Tonne
Publication year - 1985
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1985.tb03163.x
Subject(s) - metachromatic leukodystrophy , arylsulfatase a , dystonia , retinitis pigmentosa , medicine , leukodystrophy , lysosomal storage disease , degenerative disease , arylsulfatase , endocrinology , disease , psychology , pediatrics , pathology , psychiatry , biology , ophthalmology , biochemistry , retinal , enzyme
– A woman aged 21 with a variant form of metachromatic leucodystrophy (MLD) combined with another form of leucodystrophy is described. The clinical symptoms were retinitis pigmentosa and progressive neurological defitics such as mental retardation, dystonia, pyramidal tract involvement and peripheral neuropathy. The biochemical findings were marked deficiency of arylsulfatase‐A and cerebrosidesulfatase in cultured fibroblasts and excretion of sulfatides in the urine. Sulfatideloading of cultured fibroblasts showed almost normal uptake and degradation of sulfatides. The patient's sister suffers from a clinically similar neurological disease, but normal activity of arylsulfatase‐A was found in her leucocytes. A severe oral‐facial dystonia in the patient was successfully controlled by I‐dopa.