期刊
PEDIATRIC NEUROLOGY
卷 32, 期 4, 页码 270-272出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2004.10.009
关键词
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Mucopolysaccharidosis type II (Hunter disease, iduronate-2-sulfatase deficiency) was diagnosed in a 4-year-old female by demonstrating low iduronate-2sulfatase 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. (c) 2005 by Elsevier Inc. All rights reserved.
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