Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B)

Zafeiriou, Dimitrios I.; Savvopoulou-Augoustidou, Persephone; Sewell, A. C.; Papadopoulou, Freddie; Badouraki, Maria; Vargiami, Euthymia; Gombakis, N.; Katzos, George

doi:10.1016/s0387-7604(01)00242-x

Cited by 60 publications

(65 citation statements)

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“…7 The presence of cribriform changes as one of the earliest lesions of the white matter in young patients mostly led to the notion that these might be present only for a short time, followed by WMA and atrophy; thus, these are possibly related to the rate and specificity of glycolipid storage in the neurons. 10,28 Present data do not clarify the physiopathologic mechanisms responsible for the formation of cystic lesions, and there are currently 2 main explanatory theories. Parsons et al 20 first hypothesized that these areas are formed due to GAG storage around the vessels.…”

Section: Brain Lesions and Enlarged Pvsmentioning

confidence: 85%

“…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%

“…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%

“…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%

“…Concerning the cerebellum, white matter changes were demonstrated in MPS IIIB, 28 and I, 17 while finally, Chiari I malformation was reported in patients with MPS II (Fig 6).…”

mentioning

confidence: 92%

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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: 85%

Section: White and Gray Matter Signal-intensity Abnormalitiesmentioning

confidence: 99%

Section: Brain Lesions and Enlarged Pvsmentioning

confidence: 99%

Section: Brain Lesions and Enlarged Pvsmentioning

confidence: 99%

“…Concerning the cerebellum, white matter changes were demonstrated in MPS IIIB, 28 and I, 17 while finally, Chiari I malformation was reported in patients with MPS II (Fig 6).…”

mentioning

confidence: 92%

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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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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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