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01.06.2011 | Original Article

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

verfasst von: 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 Rossi, Graziolina Sanna, Rossella Parini, Maurizio Scarpa

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 3/2011

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Abstract

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.

Results

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.

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Titel: Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy
verfasst von: 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 Rossi
Graziolina Sanna
Rossella Parini
Maurizio Scarpa
Publikationsdatum: 01.06.2011
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 3/2011
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-011-9317-5

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