Early manifestations of multiple sulfatase deficiency

Robert D. Burk, David Valle, George H. Thomas, Carol Miller, Ann Moser, Hugo Moser, Kenneth N. Rosenbaum

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Abstract

We describe two boys, presenting by 1 year of age, with developmental delay from birth, mildly coarse facial features, and hepatomegaly. These clinical features were most suggestive of a mucopolysaccharidosis, particularly MPS II. Biochemical studies, including sulfate incorporation in fibroblasts and lysosomal enzyme analyses in fibroblasts, leukocytes, and serum, showed abnormalities in both sulfatide and mucopolysaccharide metabolism and led to the diagnosis of multiple sulfatase deficiency. With time, both patients developed an ichthyotic rash and profound intellectual deterioration. We conclude that findings in the first year of life in some patients with MSD may closely resemble those in patients with a MPS disorder rather than the late infantile form of metachromatic leukodystrophy, as is classically described. Thus, MSD should be considered in the young patient suspected of having a MPS disorder.

Original languageEnglish (US)
Pages (from-to)574-578
Number of pages5
JournalThe Journal of Pediatrics
Volume104
Issue number4
DOIs
StatePublished - Apr 1984
Externally publishedYes

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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Burk, R. D., Valle, D., Thomas, G. H., Miller, C., Moser, A., Moser, H., & Rosenbaum, K. N. (1984). Early manifestations of multiple sulfatase deficiency. The Journal of Pediatrics, 104(4), 574-578. https://doi.org/10.1016/S0022-3476(84)80550-8