Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses

Kulkarni, M. V.; Williams, Jack Clark; Yeakley, Joel W.; Andrews, Judie; McArdle, Craig B.; Narayana, Ponnada A.; Howell, R. Rodney; Jonas, Adam J.

doi:10.1016/0730-725x(87)90120-2

Cited by 68 publications

(38 citation statements)

References 7 publications

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“…18 In relation to their localization, cystic lesions tend to be linear, varying from patchy to diffuse, 12 and affect most brain parts, with periventricular white matter being the most common, followed by the corpus callosum (Fig 5), basal ganglia, subcortical white matter, thalami (Fig 4), and brain stem. 11,12,15,18,20,27,28,37,38,42 In most, dilated PVS range from 2 to 8 mm in diameter, 12,32 though giant cavitary lesions of 1.5 cm in the brain MR imaging of 1 patient with Hurler-Scheie syndrome were also described in the literature. 17 The cystic areas on MR imaging most likely correspond to perivascular expanded fluid spaces, first described as a neuropathologic autopsy sign by Dekaban and Constantopoulos.…”

Section: Brain Lesions and Enlarged Pvsmentioning

confidence: 99%

“…Apart from MPS II, this finding was also described in patients with MPS I and IIIB. 12,14,15,20,25,28 The pathophysiologic mechanisms causing MR imaging signal-intensity alterations are not fully understood. Nevertheless, diffuse WMA and ''honeycomb-like" appearance might be indicative of a process that leads to changes characterized by the accumulation of GAGs and gangliosides in neurons and astrocytes, 16,18,21,32,33 leading to neuronal loss, gliosis, delayed myelination, or/and demyelination.…”

Section: White and Gray Matter Signal-intensity Abnormalitiesmentioning

confidence: 99%

“…Nevertheless, the frequency, magnitude, and time of occurrence of WMA are variable in the different forms of MPS. 9 Those changes are prominent in MPS I, [10][11][12][13][14][15][16][17][18][19] II, 12-14,16,18,20-27 IIIA, 10,11 IIIB, 18,21,28 IIID, 29 and VII, 13,19 whereas in MPS IV and VI, they are found to a lesser extent and may not become apparent until adulthood. 16,19,21,30,31 WMA mainly consist of diffuse or focal areas of prolonged T1 and T2 relaxation times.…”

Section: White and Gray Matter Signal-intensity Abnormalitiesmentioning

confidence: 99%

“…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

117

106

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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%

Section: White and Gray Matter Signal-intensity Abnormalitiesmentioning

confidence: 99%

Section: White and Gray Matter Signal-intensity Abnormalitiesmentioning

confidence: 99%

Section: Brain Lesions and Enlarged Pvsmentioning

confidence: 99%

See 2 more Smart Citations

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

Zafeiriou

Batzios

2012

AJNR Am J Neuroradiol

117

106

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“…All three have had serious skeletal and connective tissue manifestations of disease including joint restriction, cervical spine stenosis, and carpal tunnel syndrome. These have all been described as common in published series of attenuated MPS II patients (Young and Harper 1982;Kulkarni et al 1987;Parsons et al 1996;Wraith et al 2008a, b). In contrast to descriptions in the literature in which hip dysplasia is a common complaint, it was not present clinically in these patients, although radiographs were not performed to exclude subclinical involvement.…”

Section: Discussionmentioning

confidence: 67%

Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase

2011

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Mucopolysaccharidosis type II (MPS IIHunter syndrome) is a rare X-linked recessive disease of lysosomal glycosaminoglycan metabolism leading to a systemic storage disorder. We report three adult brothers (aged 46-52 years) with attenuated Hunter syndrome after 12 months of enzyme replacement therapy with idursulfase. Before enzyme replacement therapy, each had serious complications of their disease: in addition to all requiring urgent cervical spinal canal decompressions in middle age, one required emergency aortic and mitral valve surgery, another had stage IV airways disease, and the third had acute glaucoma resulting in unilateral blindness. One brother discontinued therapy after 12 months. The other two brothers reported subjective improvements in energy and exercise tolerance.

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Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses

Gabrielli

Polonara

Regnicolo

et al. 2003

American J of Med Genetics Pt A

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Mucopolysaccharidoses (MPSs) are a group of inherited disorders due to lysosomal enzyme deficiencies which lead to multi-organ accumulation of glycosaminoglycans. Some forms of MPS disorders are characterized by various degrees of mental retardation. Magnetic Resonance Imaging (MRI) is the primary imaging technique to detect CNS alterations. The aim of this study is to evaluate the correlation between white matter (WM) alterations and the presence of mental retardation. We analyzed 20 patients with different forms of MPSs, 11 with mental retardation and 9 with a normal cognitive function; all of them underwent brain MRI and received a score on the basis of the alterations (WM alterations; perivascular, subarachnoid, and ventricular space enlargement; abnormalities of the basal ganglia, of the corpus callosum and of the atlanto-axial joint). All patients with mental retardation presented severe WM alterations, while only five out of the nine subjects without mental retardation showed certainly WM abnormalities. As far as the other cerebral abnormalities are concerned, no difference between the two groups has been found. These data seem to show that there is a significant correlation between the presence of WM alterations and mental retardation.

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Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses

Cited by 68 publications

References 7 publications

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase

Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses

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