Mucopolysaccharidosis type II in females: Case report and review of literature

Karin Tuschl, Andreas Gal, Eduard Paschke, Susanne Kircher, Olaf A. Bodamer

Research output: Contribution to journalArticlepeer-review

96 Scopus citations


Mucopolysaccharidosis type II (Hunter disease, iduronate-2-sulfatase deficiency) was diagnosed in a 4-year-old female by demonstrating low iduronate-2-sulfatase activity both in leukocytes and fibroblasts and by the presence of a novel, complex rearrangement of the iduronate-2-sulfatase gene in heterozygous form. Mucopolysaccharidosis type II is inherited in an X-linked recessive manner and consequently females are rare. The disease phenotype in this case is due to complete unilateral inactivation of the nonmutant paternal X chromosome of the patient. The case presented here underscores the fact that a diagnosis of mucopolysaccharidosis type II should be suspected in any female who presents with the relevant clinical symptoms.

Original languageEnglish (US)
Pages (from-to)270-272
Number of pages3
JournalPediatric Neurology
Issue number4
StatePublished - Apr 2005

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology


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