Difficulty in recognizing multiple sulfatase deficiency in an infant
- PMID: 16510683
- DOI: 10.1542/peds.2005-1032
Difficulty in recognizing multiple sulfatase deficiency in an infant
Abstract
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.
Similar articles
-
Pitfalls in the diagnosis of multiple sulfatase deficiency.Neuropediatrics. 2001 Feb;32(1):38-40. doi: 10.1055/s-2001-12213. Neuropediatrics. 2001. PMID: 11315200
-
Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.Mol Genet Metab. 2005 Sep-Oct;86(1-2):206-11. doi: 10.1016/j.ymgme.2005.07.004. Mol Genet Metab. 2005. PMID: 16125993
-
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.Hum Mutat. 2007 Sep;28(9):928. doi: 10.1002/humu.9504. Hum Mutat. 2007. PMID: 17657823
-
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.Int J Mol Sci. 2020 May 13;21(10):3448. doi: 10.3390/ijms21103448. Int J Mol Sci. 2020. PMID: 32414121 Free PMC article. Review.
-
[Lysosome enzyme pseudodeficiency].Rev Neurol (Paris). 2000 Nov;156(11):1005-12. Rev Neurol (Paris). 2000. PMID: 11119053 Review. French.
Cited by
-
Clinical aspects of neuropathic lysosomal storage disorders.J Inherit Metab Dis. 2010 Aug;33(4):315-29. doi: 10.1007/s10545-010-9079-5. Epub 2010 May 21. J Inherit Metab Dis. 2010. PMID: 20490930 Review.
-
The oral health needs of children, adolescents and young adults affected by a mucopolysaccharide disorder.JIMD Rep. 2012;2:51-8. doi: 10.1007/8904_2011_46. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430854 Free PMC article.
-
Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma.Case Rep Pediatr. 2021 Feb 16;2021:6611548. doi: 10.1155/2021/6611548. eCollection 2021. Case Rep Pediatr. 2021. PMID: 33643672 Free PMC article.
-
Lysosomal storage disorders in the newborn.Pediatrics. 2009 Apr;123(4):1191-207. doi: 10.1542/peds.2008-0635. Pediatrics. 2009. PMID: 19336380 Free PMC article. Review.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
