ArticleJournal of inherited metabolic disease2011
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.
Article in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it, 88 citations in OpenAlex.
- The etiology and evolution of magnetic resonance imaging-visible perivascular spaces: Systematic review and meta-analysis.Frontiers in neuroscience · 2023Pooled it
- The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II).International journal of environmental research and public health · 2020Pooled it
- The hidden burden of lysosomal dysfunction: visual decline and microphthalmia in Hunter syndrome.Arquivos de neuro-psiquiatria · 2025Article
- Intracranial tumor in a patient with mucopolysaccharidosis type 1 (Scheie syndrome): An extremely rare combination.Heliyon · 2024Article
- Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.Cell biochemistry and biophysics · 2023Article
- Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross-sectional analysis.JIMD reports · 2021Article
- Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?Journal of inherited metabolic disease · 2021Article
- Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review.Radiology case reports · 2021Article
- Article
- Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI featuresTurkish journal of medical sciences · 2020Article
- Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.International journal of molecular sciences · 2020Review
- Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies.BioMed research international · 2020Review
- Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.Italian journal of pediatrics · 2018Review
- Cerebral and occipito-atlanto-axial involvement in mucopolysaccharidosis patients: clinical, radiological, and neurosurgical features.Italian journal of pediatrics · 2018Review
- Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.Journal of inherited metabolic disease · 2018Article
- Mucopolysaccharidoses: overview of neuroimaging manifestations.Pediatric radiology · 2018Review
- Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.Medicine · 2018Observational
- Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis.Pediatric radiology · 2017Article
- Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses.Fluids and barriers of the CNS · 2017Article
- Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2017Review
Corrections and comments
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Authors and funding
23 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHunter disease is a rare X-linked mucopolysaccharidosis. Despite frequent neurological involvement, characterizing the severe phenotype, neuroimaging studies are scarce.
objectivesTo determine frequency and severity of neuroradiological mucopolysaccharidosis-related features; to correlate them with clinical phenotype; to evaluate their natural evolution and the impact of intravenous enzymatic replacement therapy (ERT).
methodsSixty nine brain MRI examinations of 36 Italian patients (mean-age 10.4 years; age-range 2.2-30.8; severe phenotype in 22 patients) were evaluated. Twenty patients had multiple MRIs (median follow-up 3.1 years, range 1-16.9): among them 15 had MRIs before and after ERT, six had repeated MRIs without being on ERT and five while on ERT. Perivascular, subarachnoid and ventricle space enlargement, white matter abnormality (WMA) burden, pituitary sella/skull/posterior fossa abnormalities, periodontoid thickening, spinal stenosis, dens hypoplasia, myelopathy, vertebral and intervertebral disc abnormalities were graded by means of dedicated scales.
resultsPerivascular spaces enlargement (89%), WMAs (97%), subarachnoid space enlargement (83%), IIIrd-ventricle dilatation (100%), pituitary sella abnormalities (80%), cranial hyperostosis (19%), craniosynostosis (19%), enlarged cisterna magna (39%), dens hypoplasia (66%), periodontoid thickening (94%), spinal stenosis (46%), platyspondylia (84%) and disc abnormalities (79%) were frequently detected. WMAs, IIIrd-ventricle dilatation and hyperostosis correlated with the severe phenotype (p < 0.05). Subarachnoid spaces and ventricle enlargement, WMAs and spinal stenosis progressed despite ERT, while other MR features showed minimal or no changes.
conclusionsThe spectrum of brain and spine MRI abnormalities in Hunter disease is extremely wide and requires a thorough evaluation. WMAs, atrophy/communicating hydrocephalus and spinal stenosis progress over time and might represent possible disease severity markers for new treatment efficacy assessment.
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