Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies

Multiple sulfatase deficiency is a rare metabolic storage disorder that man ifests in childhood. It is probably an autosomal-recessive inherited condit ion, the gene for which has not yet been identified, Clinical features incl ude mental deficiency and a dysmorphic appearance reminiscent of a mucopoly saccharidosis, Unlike most storage disorders, there are multiple deficient enzymes; all are sulfatases, hence the name of the disorder. Biochemical te sting reveals accumulation of glycosaminoglycans, sulfatides, and gangliosi des in the brain and other tissues of affected patients. In previous accoun ts of postmortem examinations, white matter histologic and biochemical path ologic findings similar to metachromatic leukodystrophy have been reported, Ganglioside accumulation, secondary to interference with degradative enzym e activity by the accumulating glycosaminoglycans also has been demonstrate d. The authors report a case of multiple sulfatase deficiency with only mil d deficiencies of the arylsulfatases but with severe deficiencies of iduron ate sulfatase and heparan sulfamidase, Pathologic changes were more in keep ing with a mucopolysaccharidosis, with minimal white matter changes and dep osition of metachromatic material, The authors postulate that the mild leuk odystrophic changes but striking features similar to a mucopolysaccharidosi s are reflections of the pattern of enzyme deficiency. The pathology of mul tiple sulfatase deficiency therefore represents an overlap between a leukod ystrophy and a mucopolysaccharidosis, with the relative contribution of eac h pattern apparently depending on the pattern of enzyme deficiency encounte red in each patient. (C) 1998 by Elsevier Science Inc. All rights reserved.