Multiple Sulfatase Deficiency With Early Severe Retinal Degeneration

Michael Harbord; J. Raymond Buncic; S. A. Chuang; M. A. Skomorowski; Joe T.R. Clarke

doi:10.1177/088307389100600304

Multiple Sulfatase Deficiency With Early Severe Retinal Degeneration

Michael Harbord, J. Raymond Buncic, S. A. Chuang, M. A. Skomorowski, Joe T.R. Clarke

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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. (J Child Neurol 1991;6:229-235).

Original language	English
Pages (from-to)	229-235
Number of pages	7
Journal	Journal of Child Neurology
Volume	6
Issue number	3
DOIs	https://doi.org/10.1177/088307389100600304
Publication status	Published - 1 Jul 1991
Externally published	Yes

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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. (J Child Neurol 1991;6:229-235).",

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AU - Harbord, Michael

AU - Buncic, J. Raymond

AU - Chuang, S. A.

AU - Skomorowski, M. A.

AU - Clarke, Joe T.R.

PY - 1991/7/1

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N2 - 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. (J Child Neurol 1991;6:229-235).

AB - 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. (J Child Neurol 1991;6:229-235).

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