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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References
1.
Kolodny EH: Metachromatic leukodystrophy and multiple sulfatase deficiency: Sulfatide lipidosis, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, 6th ed. New York, McGraw-Hill, 1989, pp 1721-1750.
2.
Burk RD, Valle D., Thomas GH, et al: Early manifestations of multiple sulfatase deficiency. J Pediatr1984;104:574-578.
3.
Bateman JB, Philippart M., Isenberg SJ: Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy. J Pediatr Ophthalmol Strabismus1984;21:133-139.
4.
Dembure PP, Drumheller JE, Barr SM, Elsas LJ Jr: Selective urinary screening for mucopolysaccharidoses. Clin Biochem1990;23:91-96.
5.
Strasberg PM , Warren I., Skomorowski MA, Lowden JA: HPLC analysis of urinary sulfatide: An aid in the diagnosis of metachromatic leukodystrophy . Clin Biochem1985;18:92-101.
6.
Clarke Jtr , Willard HF, Teshima I., et al: Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl. Clin Genet1990;37:355-362.
7.
Chang PL, Rosa NE, Ballantyne SR, Davidson RG: Biochemical variability of arylsulphatases -A, -B, and -C in cultured fibroblasts from patients with multiple sulphatase deficiency. J Inherited Metab Dis1983;6:167-172.
8.
Suzuki K.: Enzymatic diagnosis of sphingolipidoses, in Ginsburg V (ed): Methods in Enzymology, vol 138. New York, Academic Press, 1987, pp 727-762.
9.
Hall CW, Liebaers L., Di Natale P., Neufeld EF: Enzymic diagnosis of the genetic mucopolysaccharidoses, in Ginsburg V (ed): Methods in Enzymology, vol 50. New York, Academic Press, 1978, pp 439-456.
10.
Desnick RJ, Walling LL, Anderson PM, et al: Mannosidosis: Studies of the α-mannosidase isozymes in health and disease, in Volk BW, Schneck L (eds): Current Trends in Sphingolipidoses and Allied Disorders, Advances in Experimental Biology and Medicine, vol 68. New York, Plenum Press, 1975, pp 277-299.
11.
Eto Y., Wiesmann UN, Carson JH, Herschkowitz NN: Multiple sulfatase deficiencies in cultured skin fibroblasts. Arch Neurol1974;30:153-156.
12.
Kresse H., von Figura K., Klein U., et al: Enzymic diagnosis of the genetic mucopolysaccharide storage disorders, in Ginsburg V (ed): Methods in Enzymology, vol 83. New York, Academic Press, 1982, pp 559-572.
13.
Clarke Jtr , Skomorowski MA, Chang PL: Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy. Am J Med Genet1989;33:10-13.
14.
Lowry OH, Rosebrough NJ, Farr AL, Randall RJ: Protein measurement with the Folin phenol reagent. J Biol Chem1951;193:265-275.
15.
Brett EM, Lake BD: Progressive neurometabolic brain diseases, in Brett EM (ed): Paediatric Neurology. Edinburgh , Churchill Livingstone, 1983, pp 128-177.
16.
Riedel KG, Zwaan J., Kenyon KR, et al: Ocular abnormalities in mucolipidosis IV. Am J Ophthalmol1985;99:125-136.
Colan RV, Snead OC, Ceballos R.: Olivopontocerebellar atrophy in children: A report of seven cases in two families . Ann Neurol1981;10:355-363.
22.
Hunter Agw , Jurenka S., Thompson D., Evans JA: Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration, and progressive glomerulopathy: An autosomal recessive oculo-renal-cerebellar syndrome. Am J Med Genet1982;11:383-395.
23.
Gordon AM, Capute AJ, Konigsmark BW: Progressive quadriparesis, mental retardation, retinitis pigmentosa, and hearing loss: Report of two sibs. Johns Hopkins Med J1976; 138:142-145.
24.
Hogan K., Matalon R., Berlow S., et al: Multiple sulfatase deficiency: Clinical, radiologic, electrophysiologic, and biochemical features. Neurology1983;33(Suppl 2):245.
25.
Couchot J., Pluot M., Schmauch M-A., et al: La mucosulfatidose: Étude de trois cas familiaux. Arch Fr Pediatr1974;31: 779-795.
26.
Rampini S., Isler W., Baerlocher K., et al: Die Kombination von metachromatischer Leukodystrophie und Mukopolysaccharidose als selbständiges Kranheitsbild (Mukosulfatidose). Helv Paediatr Acta1970;5:436-461.
27.
Austin JH: Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency . Arch Neurol1973;28:258-264.
28.
Mossakowski M., Mathieson G., Cumings JN: On the relationship of metachromatic leukodystrophy and amaurotic idiocy. Brain1961;84:585-604.
29.
Horowitz AL , Warshawsky L., King J., Burns G.: Rapid degradation of steroid sulfatase in multiple sulfatase deficiency. Biochem Biophys Res Commun1986;135:389-396.
30.
Steckel F., Hasilik A., von Figura K.: Synthesis and stability of arylsulfatase A and B in fibroblasts from multiple sulfatase deficiency. Eur J Biochem1985;151:141-145.
31.
Steckel F., Hasilik A., von Figura K.: Multiple sulfatase deficiency: Degradation of arylsulfatases A and B after endocytosis in fibroblasts. Eur J Biochem1985;151:147-152.
32.
Conary JT, Hasilik A., von Figura K.: Synthesis and stability of steroid sulfatase in fibroblasts from multiple sulfatase deficiency. Biol Chem Hoppe Seyler1988;369:297-302.
