Early manifestations of multiple sulfatase deficiency

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

Research output: Contribution to journalArticle

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
JournalJournal of Pediatrics
Volume104
Issue number4
DOIs
StatePublished - 1984
Externally publishedYes

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Multiple Sulfatase Deficiency Disease
Fibroblasts
Metachromatic Leukodystrophy
Mucopolysaccharidoses
Sulfoglycosphingolipids
Hepatomegaly
Exanthema
Glycosaminoglycans
Sulfates
Leukocytes
Parturition
Enzymes
Serum

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

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

Early manifestations of multiple sulfatase deficiency. / Burk, Robert D.; Valle, David; Thomas, George H.; Miller, Carol; Moser, Ann B.; Moser, Hugo; Rosenbaum, Kenneth N.

In: Journal of Pediatrics, Vol. 104, No. 4, 1984, p. 574-578.

Research output: Contribution to journalArticle

Burk, RD, Valle, D, Thomas, GH, Miller, C, Moser, AB, Moser, H & Rosenbaum, KN 1984, 'Early manifestations of multiple sulfatase deficiency', Journal of Pediatrics, vol. 104, no. 4, pp. 574-578. https://doi.org/10.1016/S0022-3476(84)80550-8
Burk, Robert D. ; Valle, David ; Thomas, George H. ; Miller, Carol ; Moser, Ann B. ; Moser, Hugo ; Rosenbaum, Kenneth N. / Early manifestations of multiple sulfatase deficiency. In: Journal of Pediatrics. 1984 ; Vol. 104, No. 4. pp. 574-578.
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