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 journalArticle

81 Citations (Scopus)

Abstract

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
Pages (from-to)270-272
Number of pages3
JournalPediatric Neurology
Volume32
Issue number4
DOIs
StatePublished - Apr 1 2005

Fingerprint

Mucopolysaccharidosis II
Iduronate Sulfatase
Mucopolysaccharidosis I
X Chromosome
Leukocytes
Fibroblasts
Phenotype
Genes

ASJC Scopus subject areas

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

Cite this

Mucopolysaccharidosis type II in females : Case report and review of literature. / Tuschl, Karin; Gal, Andreas; Paschke, Eduard; Kircher, Susanne; Bodamer, Olaf A.

In: Pediatric Neurology, Vol. 32, No. 4, 01.04.2005, p. 270-272.

Research output: Contribution to journalArticle

Tuschl, Karin ; Gal, Andreas ; Paschke, Eduard ; Kircher, Susanne ; Bodamer, Olaf A. / Mucopolysaccharidosis type II in females : Case report and review of literature. In: Pediatric Neurology. 2005 ; Vol. 32, No. 4. pp. 270-272.
@article{331af8f1770540f18d6ace1bd9d0b6a8,
title = "Mucopolysaccharidosis type II in females: Case report and review of literature",
abstract = "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.",
author = "Karin Tuschl and Andreas Gal and Eduard Paschke and Susanne Kircher and Bodamer, {Olaf A.}",
year = "2005",
month = "4",
day = "1",
doi = "10.1016/j.pediatrneurol.2004.10.009",
language = "English",
volume = "32",
pages = "270--272",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",
number = "4",

}

TY - JOUR

T1 - Mucopolysaccharidosis type II in females

T2 - Case report and review of literature

AU - Tuschl, Karin

AU - Gal, Andreas

AU - Paschke, Eduard

AU - Kircher, Susanne

AU - Bodamer, Olaf A.

PY - 2005/4/1

Y1 - 2005/4/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=15744375829&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=15744375829&partnerID=8YFLogxK

U2 - 10.1016/j.pediatrneurol.2004.10.009

DO - 10.1016/j.pediatrneurol.2004.10.009

M3 - Article

VL - 32

SP - 270

EP - 272

JO - Pediatric Neurology

JF - Pediatric Neurology

SN - 0887-8994

IS - 4

ER -