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Neuroimaging findings in mucopolysaccharidosis : a retrospective study
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Propósito: As mucopolissacaridoses (MPS) são um grupo de doenças metabólicas hereditárias cujo envolvimento do sistema nervoso central e periférico ocorre em quase todos os tipos. A neuroimagiologia é uma ferramenta valiosa para a avaliação do envolvimento neurológico, para o seguimento e para o acompanhamento da eficácia terapêutica. Este estudo pretende retratar parte da população portuguesa de doentes com mucopolissacaridose, seguida num centro de referência.
Métodos: Foi realizado um estudo observacional e retrospetivo, com revisão dos processos clínicos e exames de neuroimagem de 11 doentes com diagnóstico de mucopolissacaridose seguidos no Centro de Referência de Doenças Metabólicas do Centro Hospitalar Lisboa Norte, EPE. Efetuou-se uma análise de imagens convencionais de tomografia computorizada e ressonância magnética para identificação das alterações estruturais existentes, qual a sua prevalência e se existia correlação com o subtipo de MPS ou com a sintomatologia.
Resultados: Vinte doentes foram identificados. Dos nove doentes com exames de imagem crânio-encefálicos, apenas um não apresentava nenhuma alteração, e todos os doentes com um estudo imagiológico da coluna vertebral apresentavam algum tipo de alteração. As alterações crânio-encefálicas mais comuns foram a ventriculomegalia seguida de alterações de sinal na substância branca e alterações da conformação da calote craniana. Outras alterações, presentes em mais de 50% dos doentes foram a dilatação dos espaços perivasculares e a presença de atrofia cortical. Relativamente aos achados da coluna vertebral, as alterações mais frequentes foram o espessamento ligamentar (especialmente na região Craniocervical), a presença de estenose do canal vertebral que em três doentes levou a compressão medular, alterações na conformação vertebral e a presença de angulações cifóticas.
Purpose: Mucopolysaccharidoses (MPS) are a group of inherited metabolic diseases commonly involving the central and peripheral nervous system in almost all its types. Thus, neuroimaging is a valuable tool for the assessment of neurological involvement, for the follow-up of these patients and for monitoring therapeutic efficacy. This study aims to portray neuroimaging findings of paediatric and adult MPS patients in a Portuguese reference center. Methods: An observational and retrospective study, with review of the clinical files and neuroimaging examinations of paediatric and adult patients diagnosed with mucopolysaccharidosis and followed at Centro Hospitalar Lisboa Norte, EPE was performed. An analysis of conventional CT and MRI images was carried out to identify the existing structural alterations, what their prevalence was and whether there was a correlation with the MPS type or with the symptomatic presentation. Results: Twenty patients were identified. Of the nine patients with cranioencephalic imaging examinations, all but one had abnormal findings, and all patients with spinal imaging had some type of change. The most common cranioencephalic changes were ventriculomegaly followed by signal changes in the white matter and changes in the conformation of the cranial cap (which had the same prevalence). Other common changes, present in more than 50% of the patients, were dilatation of the perivascular spaces and the presence of cortical atrophy. Regarding the findings of spine imaging, the most frequent alteration was ligament thickening (especially at the craniocervical region), stenosis of the vertebral canal which in three patients led to spinal cord compression, alterations in vertebral conformation and the presence of kyphotic angulations. Conclusion: The neuroimaging evaluation of MPS is especially important considering the high incidence of alterations, even in asymptomatic patients. The routine imaging study in all patients with mucopolysaccharidosis may be important to support early therapeutic action.
Purpose: Mucopolysaccharidoses (MPS) are a group of inherited metabolic diseases commonly involving the central and peripheral nervous system in almost all its types. Thus, neuroimaging is a valuable tool for the assessment of neurological involvement, for the follow-up of these patients and for monitoring therapeutic efficacy. This study aims to portray neuroimaging findings of paediatric and adult MPS patients in a Portuguese reference center. Methods: An observational and retrospective study, with review of the clinical files and neuroimaging examinations of paediatric and adult patients diagnosed with mucopolysaccharidosis and followed at Centro Hospitalar Lisboa Norte, EPE was performed. An analysis of conventional CT and MRI images was carried out to identify the existing structural alterations, what their prevalence was and whether there was a correlation with the MPS type or with the symptomatic presentation. Results: Twenty patients were identified. Of the nine patients with cranioencephalic imaging examinations, all but one had abnormal findings, and all patients with spinal imaging had some type of change. The most common cranioencephalic changes were ventriculomegaly followed by signal changes in the white matter and changes in the conformation of the cranial cap (which had the same prevalence). Other common changes, present in more than 50% of the patients, were dilatation of the perivascular spaces and the presence of cortical atrophy. Regarding the findings of spine imaging, the most frequent alteration was ligament thickening (especially at the craniocervical region), stenosis of the vertebral canal which in three patients led to spinal cord compression, alterations in vertebral conformation and the presence of kyphotic angulations. Conclusion: The neuroimaging evaluation of MPS is especially important considering the high incidence of alterations, even in asymptomatic patients. The routine imaging study in all patients with mucopolysaccharidosis may be important to support early therapeutic action.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2022
Palavras-chave
Mucopolissacaridose Neuroimagiologia Ventriculomegalia Dilatação dos espaços perivasculares Atrofia cortical Estenose craniocervical Imagiologia