TY - JOUR
T1 - Multiple Sulfatase Deficiency With Early Severe Retinal Degeneration
AU - Harbord, Michael
AU - Buncic, J. Raymond
AU - Chuang, S. A.
AU - Skomorowski, M. A.
AU - Clarke, Joe T.R.
PY - 1991/7/1
Y1 - 1991/7/1
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).
UR - http://www.scopus.com/inward/record.url?scp=0025741619&partnerID=8YFLogxK
U2 - 10.1177/088307389100600304
DO - 10.1177/088307389100600304
M3 - Article
C2 - 1875023
AN - SCOPUS:0025741619
VL - 6
SP - 229
EP - 235
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 3
ER -