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Journal of Inherited Metabolic Disease

, Volume 34, Issue 3, pp 763–780 | Cite as

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 Rossi
  • Graziolina Sanna
  • Rossella Parini
  • Maurizio Scarpa
Original Article

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.

Keywords

Enzyme Replacement Therapy Spinal Stenosis Magnetic Resonance Image Examination Magnetic Resonance Image Feature Magnetic Resonance Image Abnormality 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgment

We acknowledge Fondazione Pierfranco e Luisa Mariani for their consistent economic support to the metabolic Center in Monza.

We acknowledge Frits Wijburg and Chiara Briani for their critical support.

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Copyright information

© SSIEM and Springer 2011

Authors and Affiliations

  • Renzo Manara
    • 1
  • Elena Priante
    • 2
  • Marco Grimaldi
    • 3
  • Lucia Santoro
    • 4
  • Luca Astarita
    • 5
  • Rita Barone
    • 6
  • Daniela Concolino
    • 7
  • Maja Di Rocco
    • 8
  • Maria Alice Donati
    • 9
  • Simona Fecarotta
    • 5
  • Anna Ficcadenti
    • 4
  • Agata Fiumara
    • 6
  • Francesca Furlan
    • 10
  • Irene Giovannini
    • 2
  • Franco Lilliu
    • 11
  • Rodica Mardari
    • 1
  • Gabriele Polonara
    • 12
  • Elena Procopio
    • 9
  • Angelica Rampazzo
    • 2
  • Andrea Rossi
    • 13
  • Graziolina Sanna
    • 11
  • Rossella Parini
    • 10
  • Maurizio Scarpa
    • 2
  1. 1.Neuroradiologic UnitUniversity Hospital of PaduaPadovaItaly
  2. 2.Centre for Rare Diseases, Department of PediatricsUniversity of PaduaPaduaItaly
  3. 3.Neuroradiology Section, Department of RadiologySan Gerardo HospitalMonzaItaly
  4. 4.Metabolic diseases, Institute of Maternal-Infantile SciencesPolytechnic University of MarcheAnconaItaly
  5. 5.Department of PediatricsFederico II UniversityNaplesItaly
  6. 6.Referral centre for inherited metabolic diseases, Department of PediatricsUniversity of CataniaCataniaItaly
  7. 7.Department of PediatricsMagna Graecia University of CatanzaroCatanzaroItaly
  8. 8.Unit of Rare Diseases, Department of PediatricsGaslini Institute GenoaGenovaItaly
  9. 9.Metabolic and Neuromuscular Unit, Meyer Children HospitalUniversity of FlorenceFlorenceItaly
  10. 10.Rare Metabolic Diseases Unit Fondazione Mariani, Pediatric DepartmentSan Gerardo HospitalMonzaItaly
  11. 11.Department of Biomedical Sciences and BiotechnologiesCagliariItaly
  12. 12.Radiology Section, Department of Clinical SciencesPolytechnic University of MarcheAnconaItaly
  13. 13.Pediatric Neuroradiology DepartmentG. Gaslini Children’s HospitalGenoaItaly

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