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Journal of Child Neurology
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Multiple Sulfatase Deficiency With Early Severe Retinal Degeneration

Michael Harbord, MBBS

Divisions of Neurology and Clinical Genetics, Departments of Pediatrics, Ophthalmology, and Radiology, Hospital for Sick Children, and University of Toronto, Toronto, Ontario, Canada

J. Raymond Buncic, MD

Divisions of Neurology and Clinical Genetics, Departments of Pediatrics, Ophthalmology, and Radiology, Hospital for Sick Children, and University of Toronto, Toronto, Ontario, Canada

S.A. Chuang, MD

Divisions of Neurology and Clinical Genetics, Departments of Pediatrics, Ophthalmology, and Radiology, Hospital for Sick Children, and University of Toronto, Toronto, Ontario, Canada

M.A. Skomorowski, BSc

Divisions of Neurology and Clinical Genetics, Departments of Pediatrics, Ophthalmology, and Radiology, Hospital for Sick Children, and University of Toronto, Toronto, Ontario, Canada

Joe T.R. Clarke, MD, PhD

Divisions of Neurology and Clinical Genetics, Departments of Pediatrics, Ophthalmology, and Radiology, Hospital for Sick Children, and University of Toronto, Toronto, Ontario, Canada

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).

Journal of Child Neurology, Vol. 6, No. 3, 229-235 (1991)
DOI: 10.1177/088307389100600304
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