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

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

doi:10.1007/s10545-011-9317-5

Cited by 79 publications

(95 citation statements)

References 36 publications

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“…23,34 Although prominent in most patients with MPS, this feature is nonspecific because it was found in numerous pathologic conditions and healthy subjects as well. 35 Enlarged PVS have been described so far in MPS I, [10][11][12][13]15,[17][18][19]36 II, 10,12,13,18,[20][21][22][23]27,37 IIIA, 10,38,39 IIIB, 28,40,41 and VI. 16,18,19,30 In general, children with MPS I and II show the most profound enlargement of PVS, giving rise to a ''sieve-like" appearance.…”

Section: Brain Lesions and Enlarged Pvsmentioning

confidence: 99%

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Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

Zafeiriou

Batzios

2012

AJNR Am J Neuroradiol

115

103

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SUMMARY: MPS represents a group of rare hereditary disorders characterized by multisystem involvement due to intralysosomal GAG accumulation. Among various tissues, both the central and peripheral nervous system are affected in almost all types of the disease. Thus, brain and spinal MR imaging are valuable tools for the assessment of neurologic involvement, and there is evidence that they might be reliable markers demonstrating disease severity and efficacy of treatment options currently used in patients with MPS. We aimed to review the most prominent MR imaging features of patients with MPS, paying attention to the physiopathologic mechanisms responsible for these alterations. Along with the description of neuroimaging findings, existing data in relation to their correlation with the severity of neurologic involvement is discussed, while another topic of great importance is the effect of various therapeutic regimens in the progression of brain and spinal MR imaging alterations. Finally, recent data concerning MR spectroscopy studies in MPS are also critically discussed. ABBREVIATIONS:ERT ϭ enzyme replacement therapy; GAG ϭ glycosaminoglycan; HSCT ϭ hematopoietic stem cell transplantation; MPS ϭ mucopolysacchari-

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Section: Brain Lesions and Enlarged Pvsmentioning

confidence: 99%

“…This is actually the reason that some authors merged data regarding those 2 situations and considered them as one. 22 Nevertheless, Lee et al 10 …”

Section: Atrophic Changesmentioning

confidence: 99%

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

Zafeiriou

Batzios

2012

AJNR Am J Neuroradiol

115

103

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“…Given the scarcity and heterogeneity of the disease, it is hard to be certain that the hydrocephalus is directly attributable to the mannosidosis, but it is the most likely explanation. Indeed in storage disorders it is occasionally hard to differentiate between communicating hydrocephalus and cerebral atrophy (Manara et al 2011) though the progressive macrocephaly would be indicative of the former.…”

Section: Case Reportmentioning

confidence: 99%

A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus

et al. 2013

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“…A brain MRI revealed several typical neuroradiological MPS features such as the J-shaped pituitary sella, the enlargement of perivascular (Virchow-Robin) spaces in the corpus callosum and centrum semiovale bilaterally, moderate ventricular enlargement, and enlarged cisterna magna along with ectopia of the cerebellar tonsils >6 mm below the foramen magnum, consistent with CM1. At the cranio-cervical region, the MRI showed dens hypoplasia with a periodontoid cap leading to mild stenosis of the cervical canal (score 2 according to Manara et al 2011), while the upper cervical spinal cord was normal (Fig. 1).…”

Section: Clinical Descriptionmentioning

confidence: 99%

“…At birth, MPS-II patients appear phenotypically normal, but they gradually develop morphologic changes, recurrent respiratory infections, joint stiffness, and organomegaly (Young et al 1982;Finn et al 2008). About 10 % of MPS-II patients present with severe upper spinal canal stenosis causing spinal cord compression (Manara et al 2011). Though less frequent than in other MPS forms, such as Morquio disease, severe myelopathy requiring decompressive surgery may also occur (Ballenger et al 1980;O'Brien et al 1997;Kaendler et al 1990;Vinchon et al 1995).…”

Section: Introductionmentioning

confidence: 99%

Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome

et al. 2013

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Compressive cervical myelopathy is a well-known life-threatening complication in mucopolysaccharidosis (MPS) patients. Glycosaminoglycan accumulation in the growing cartilage results in dens dysplasia, atlanto-axial instability, and subsequent periodontoid fibrocartilaginous tissue deposition with upper cervical stenosis.Chiari malformation type 1 (CM1) is a congenital downward cerebellar tonsil ectopia determined by clivus and posterior cranial fossa underdevelopment, possibly leading to progressive spinal cord cavitation (syringomyelia) and severe neurological impairment.We present a boy affected with Hunter syndrome (MPS II) and cerebellar tonsil ectopia who developed a holocord syringomyelia at the age of 6 years. The child underwent atlanto-occipital decompressive surgery with rapid clinical and neuroimaging improvement.Sharing a primary mesenchymal involvement of the cervical-occipital region, the coexistence of CM1 in MPS might be not unexpected and complicate further the disease course. In these patients, strict monitoring and prompt treatment might be of foremost importance for preventing major neurological complications.

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

Cited by 79 publications

References 36 publications

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus

Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome

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