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Article

Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.

Journal of inherited metabolic disease - 1 Dec 2010

Manara Renzo, Rampazzo Angelica, Cananzi Mara, Salviati Leonardo, Mardari Rodica, Drigo Paola, Tomanin Rosella, Gasparotto Nicoletta, Priante Elena, Scarpa Maurizio

Abstract excerpt

Mucopolysaccharidosis type II (MPS-II, Hunter disease) is a X-linked recessive disorder. Affected females are extremely rare, mostly due to skewed X chromosome inactivation. A few papers outline MPS-II brain magnetic resonance imaging (MRI) "gestalt" in males, but neuroradiological reports on females are still lacking. We present an 11-year-old girl affected by the severe form of MPS-II who was followed up over a...

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PMID: 20052546
DOI: 10.1007/s10545-009-9023-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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