The value of computed tomography in patients with mucopolysaccharidosis

Nelson, John W.; Grebbell, F. S.

doi:10.1007/bf00350438

Cited by 17 publications

(4 citation statements)

References 4 publications

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“…In all cases where the patient was alive at the time of the study, the diagnosis was confirmed by the appropriate enzyme assay. Clinical, biochemical, mutation analysis and radiological findings on many of the patients have already been described (Nelson 1986;Nelson and Grebbell 1987;Nelson and Kinirons 1988;Nelson and Thomas 1988;Nelson and Carson 1989;Kinirons and Nelson 1990;Nelson et al 1990; Thomas et al 1991;Nelson et al 1993;Yamada et al 1997).…”

Section: John Nelsonmentioning

confidence: 89%

Incidence of the mucopolysaccharidoses in Northern Ireland

1997

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An epidemiological study of the mucopolysaccharidoses (MPS) in Northern Ireland using multiple ascertainment sources was carried out and the incidence rate for the period 1958-1985 was estimated. An incidence of approximately 1 in 76,000 live births was obtained for MPS 1H (Hurler phenotype); 1 in 280,000 for MPS 1 H/S (Hurler/Scheie phenotype); 1 in 140,000 live births (1 in 72,000 male live births) for MPS II (Hunter syndrome); 1 in 280,000 for MPS III (Sanfilippo syndrome) and 1 in 76,000 for MPS IV A (Morquio syndrome type A). No cases of MPS IS (Scheie phenotype), MPS IV B (Morquio syndrome type B) or MPS VI (Maroteaux-Lamy syndrome) were ascertained during the study period. Three cases of non-immune hydrops fetalis born to consanguineous parents were thought to be due to beta-glucuronidase deficiency (MPS VII) on the basis of placental histology and enzyme studies on both parents but no living cases of MPS VII were ascertained. The overall incidence for all types of mucopolysaccharidosis was approximately 1 in 25,000 live births. A comparison is made with incidence estimates obtained from other published studies.

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Section: John Nelsonmentioning

confidence: 89%

Incidence of the mucopolysaccharidoses in Northern Ireland

1997

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“…7 The first neuroradiologic studies in MPS were performed with the use of x-ray CT and led to the identification of nonspecific imaging features, most prominent of which were the demonstration of low-attenuation white matter areas and the presence of ventricular and subarachnoid space dilation. 8 The identification of white matter changes in the brain of patients with MPS led to the first MR imaging studies, because this imaging technique is undoubtedly the most sensitive method and represents, currently, the primary imaging technique for the detection of brain and spinal abnormalities in patients with MPS.…”

Section: Neuropathologic and Ct Neuroimaging Studiesmentioning

confidence: 99%

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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“…In Table I, the main clinical features of MPSs are listed including reference to the association with MR. The first neuroradiological studies of the CNS, using Computerized Tomography have led to the identification of cerebral alterations that are not specific for MPSs; such as low density areas in the white matter (WM) and ventricular and subarachnoid space dilation [Watts et al, 1981; Nelson and Grebbell, 1987]. Further studies proved that Magnetic Resonance Imaging (MRI) is the primary imaging modality for the detection of WM abnormalities in patients with MPSs [Afifi et al, 1990].…”

Section: Introductionmentioning

confidence: 99%

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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The value of computed tomography in patients with mucopolysaccharidosis

Cited by 17 publications

References 4 publications

Incidence of the mucopolysaccharidoses in Northern Ireland

Incidence of the mucopolysaccharidoses in Northern Ireland

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

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

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