Brain and spine MRI features of Hunter disease: Frequency, natural evolution and response to therapy

Renzo Manara, Elena Priante, Marco Grimaldi, Lucia Santoro, Luca Astarita, Rita Barone, Daniela Concolino, Maja Di Rocco, Maria Alice Donati, Simona Fecarotta, Anna Ficcadenti, Agata Fiumara, Francesca Furlan, Irene Giovannini, Franco Lilliu, Rodica Mardari, Gabriele Polonara, Elena Procopio, Angelica Rampazzo, Andrea RossiGraziolina Sanna, Rossella Parini, Maurizio Scarpa

Research output: Contribution to journalArticle


Backgroud: Hunter disease is a rare X-linked mucopolysaccharidosis. Despite frequent neurological involvement, characterizing the severe phenotype, neuroimaging studies are scarce. Objectives: To 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). Methods: Sixty 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. Perivascular 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. Conclusions: The 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.

Original languageEnglish
Pages (from-to)763-780
Number of pages18
JournalJournal of Inherited Metabolic Disease
Issue number3
Publication statusPublished - Jun 2011

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Manara, R., Priante, E., Grimaldi, M., Santoro, L., Astarita, L., Barone, R., Concolino, D., Di Rocco, M., Donati, M. A., Fecarotta, S., Ficcadenti, A., Fiumara, A., Furlan, F., Giovannini, I., Lilliu, F., Mardari, R., Polonara, G., Procopio, E., Rampazzo, A., ... Scarpa, M. (2011). Brain and spine MRI features of Hunter disease: Frequency, natural evolution and response to therapy. Journal of Inherited Metabolic Disease, 34(3), 763-780.