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Difficulty in recognizing multiple sulfatase deficiency in an infant

Roberto P Santos1, Joe J Hoo

  • 1Department of Pediatrics, State University of New York-Upstate Medical University, Syracuse, New York, USA. roberto.santos@utsouthwestern.edu

Pediatrics
|March 3, 2006
PubMed

Insights

Multiple sulfatase deficiency (MSD) is challenging to diagnose due to its variability. This case highlights rare congenital thumb and toe deformities as a potential early sign in infants.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Multiple sulfatase deficiency (MSD) is a rare, autosomal recessive lysosomal storage disorder.
  • It results from impaired posttranslational activation of multiple sulfatase enzymes, leading to biochemical and clinical variability.
  • MSD presents a diagnostic challenge due to its diverse clinical manifestations.

Observation:

  • A case report of an infant girl presenting with bilateral broad thumbs and angulated great toes at birth.
  • Initial differential diagnosis included Rubinstein-Taybi syndrome.
  • Inclusion bodies in white blood cells at 37 months prompted further investigation for lysosomal storage diseases.

Findings:

  • Elevated urine mucopolysaccharides and subsequent fibroblast enzyme assays confirmed the diagnosis of MSD.
  • The patient exhibited rare congenital anomalies, specifically bilateral broad thumbs and angulated great toes.
  • These specific physical features have not been previously reported in association with MSD.

Implications:

  • This case expands the known clinical spectrum of Multiple Sulfatase Deficiency.
  • Recognizing rare physical anomalies like congenital thumb and toe deformities can aid in earlier MSD diagnosis.
  • Highlights the importance of comprehensive diagnostic workups for rare genetic disorders in infants.

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