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NEUROLOGY 1988;38:1273
© 1988 American Academy of Neurology

Multiple sulfatase deficiency

B-W. Soong, MD, A. C. Casamassima, MD, J. K. Fink, MD, G. Constantopoulos, PhD and A. L. Horwitz, MD, PhD

Developmental and Metabolic Neurology Branch, National Institutes of Health, Bethesda, MD (Drs. Soong, Fink, and Constantopoulos)
Department of Neurology, National Defense Medical Center, Taipei, Taiwan, Republic of China (Dr. Soong)
Medical Genetic Unit, West Chester County Medical Center, Valhalla, NY (Dr. Casamassima)
Department of Pediatrics, University of Chicago, Chicago, IL (Dr. Horwitz).

Multiple sulfatase deficiency is an inherited disorder characterized by a deficiency of several sulfatases and the accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids. The clinical manifestations represent the summation of two diseases: late infantile metachromatic leukodystrophy and mucopolysaccharidosis. We present a 9-year-old girl with a phenotype similar to a mucopolysaccharidosis: short stature, microcephaly, and mild facial dysmorphism, along with dysphagia, retinal degeneration, developmental arrest, and ataxia. We discuss the importance of measuring the sulfatase activities in the leukocytes, and the instability of sulfatases in the cultured skin fibroblasts.

Address correspondence and reprint requests to Dr. Soong, Department of Neurology, Veterans General Hospital, Taipei, Taiwan 11217, Republic of China.

Received September 3, 1987. Accepted for publication in final form January 4, 1988.




This article has been cited by other articles:


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A. Al Aqeel, P.T. Ozand, J. Brismar, G.G. Gascon, G. Brismar, M. Nester, and N. Sakati
Saudi Variant of Multiple Sulfatase Deficiency
J Child Neurol, April 1, 1992; 7(1_suppl): S12 - S21.
[Abstract] [PDF]


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