ArticleJournal of inherited metabolic disease2010
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.
Article in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 22 citations in OpenAlex.
- The etiology and evolution of magnetic resonance imaging-visible perivascular spaces: Systematic review and meta-analysis.Frontiers in neuroscience · 2023Pooled it
- Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.Orphanet journal of rare diseases · 2011Guideline
- Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.European journal of pediatrics · 2019Trial
- Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.JIMD reports · 2026Article
- Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024Review
- Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II.Annals of laboratory medicine · 2022Article
- Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.BMC medical genomics · 2021Article
- Gene Therapy for Mucopolysaccharidosis Type II-A Review of the Current Possibilities.International journal of molecular sciences · 2021Review
- Dosage Compensation in Females with X-Linked Metabolic Disorders.International journal of molecular sciences · 2021Review
- Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.International journal of molecular sciences · 2020Review
- Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.Italian journal of pediatrics · 2018Review
- Sella turcica measurements on lateral cephalograms of patients with neurofibromatosis type 1.GMS Interdisciplinary plastic and reconstructive surgery DGPW · 2017Article
- Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase.JIMD reports · 2011Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 time span of 8 years, focusing on clinical and brain MRI evolution. In the last 2.5 years, the patient has been treated with enzyme replacement therapy (ERT) with idursulfase (Elaprase™, Shire Human Genetic Therapies AB, Sweden). On brain and cervical MRI examination, abnormalities in our patient did not differ from those detected in male patients: J-shaped pituitary sella, enlargement of perivascular spaces, brain atrophy, mild T2-hyperintensity in the paratrigonal white matter, diffuse platyspondylia, and mild odontoid dysplasia with odontoid cup. Brain atrophy progressed despite ERT introduction, whereas perivascular space enlargement did not change significantly before and after ERT. Cognitive impairment worsened independently from the course of white matter abnormality. Despite a profound knowledge of genetic and biochemical aspects in MPS-II, neuroradiology is still poorly characterized, especially in female patients. Spinal and brain involvement and its natural course and evolution after ERT introduction still need to be clarified.
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