title: Multiple sulfatase deficiency with early severe retinal degeneration.
abstract: We report an unusual case of multiple sulfatase deficiency in which neurodegeneration was accompanied by early, severe visual impairment associated with prominent pigmentary retinopathy, suggesting a diagnosis of neuronal ceroid-lipofuscinosis. The levels of arylsulfatases A, B, and C, heparan N-sulfatase, N-acetylgalactosamine-6-sulfate sulfatase, and iduronate-2-sulfate sulfatase were all markedly decreased in cultured skin fibroblasts. Screening tests for mucopolysacchariduria were consistently negative; however, thin-layer chromatographic analysis of isolated urinary glycosaminoglycans showed increased amounts of heparan sulfate.
authors.affiliation: Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Harbord
authors.forename: J R
authors.initials: JR
authors.lastname: Buncic
authors.forename: S A
authors.initials: SA
authors.lastname: Chuang
authors.forename: M A
authors.initials: MA
authors.lastname: Skomorowski
authors.forename: J T
authors.initials: JT
authors.lastname: Clarke
mesh_terms: D002648:Child; D006801:Humans; D008297:Male; D012162:Retinal Degeneration / Q000209:etiology*; D013429:Sulfatases / Q000172:deficiency*
chemical_list: D013429:Sulfatases