Published online March 1, 2006
PEDIATRICS Vol. 117 No. 3 March 2006, pp. 955-958 (doi:10.1542/10.1542/peds.2005-1032)
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EXPERIENCE AND REASON

Difficulty in Recognizing Multiple Sulfatase Deficiency in an Infant

Roberto P. Santos, MDa and Joe J. Hoo, MDb

a Department of Pediatrics
b Division of Genetics, Department of Pediatrics, State University of New York-Upstate Medical University, Syracuse, New York

We describe the difficulty in recognizing multiple sulfatase deficiency (MSD; Online Mendelian Inheritance in Man [OMIM] database No. 272200) in an infant. MSD is a rare autosomal recessive disorder that affects the posttranslational activation of various sulfatase enzymes. It is both biochemically and clinically variable. Currently, there are 12 known sulfatases in humans, and the clinical presentation of MSD is a unique composite of those individual enzyme defects. Here we report a black girl who presented with bilateral broad thumbs and great toes, both with angulation deformities at birth. Rubinstein-Taybi syndrome (OMIM No. 180849) was considered initially. The detection of inclusion bodies in her white blood cells at 37 months of age led to the appropriate diagnostic workups for lysosomal storage diseases. Elevation of urine mucopolysaccharides provided additional clues, and the fibroblast enzyme assays finally established the diagnosis. Broad thumbs and great toes are rare features of MSD, and to the best of our knowledge such a bilateral congenital anomaly with angulation deformities has never been reported before to be associated with MSD.

Key Words: multiple sulfatase deficiency • posttranslational defect • broad and angulated thumbs and great toes

Abbreviations: MSD, multiple sulfatase deficiency • RTS, Rubinstein-Taybi syndrome

Accepted Jul 21, 2005.


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