ABSTRACT
Mucopolysaccharidosis (MPS) is an inherited metabolic disease and a member of the group of lysosomal storage disorders. Its hallmark is a deficiency of lysosomal enzymes involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). The products of GAG degradation accumulate within lysosomes and in the extracellular space, thereby interfering with the degradation of other macromolecules. This process leads to chronic degeneration of cells, which in turn affects multiple organs and systems. There are seven distinct types of MPS (I, II, III, IV, VI, VII, and IX), which are divided into subtypes according to the deficient enzyme and the severity of the clinical picture. Although clinical manifestations vary considerably among the different types of MPS, the central nervous system (CNS) is characteristically affected, and magnetic resonance (MR) imaging is the method of choice to evaluate brain and spinal cord abnormalities. Enlarged perivascular spaces, white matter lesions, hydrocephalus, brain atrophy, cervical spinal canal stenosis with or without spinal cord compression and myelopathy, and bone abnormalities in the skull and spine (dysostosis multiplex) are typical imaging findings described in the literature and reviewed in this article. The differential diagnosis of MPS is limited because the constellation of imaging findings is highly suggestive. Thus, radiologists should be aware of its typical neuroimaging findings so they can recognize cases not yet diagnosed, exclude other metabolic diseases, monitor CNS findings over time, and assess treatment response. (©)RSNA, 2016.
Subject(s)
Magnetic Resonance Imaging/methods , Mucopolysaccharidoses/diagnostic imaging , Neuroimaging/methods , Humans , Mucopolysaccharidoses/physiopathologyABSTRACT
Objetivo: o presente estudo procura avaliar as possíveis patologias que se manifestam associadas à hiperecogenicidade dos vasos talâmicos na ultra-sonografia cerebral, e observar a freqüência com que ocorrem. Métodos: a amostra foi constituída de 206 recém-nascidosprematuros, nascidos no Hospital de Clínicas de Porto Alegre, no período de julho de 1998 a maio de 1999. Todos realizaram a ultra-sonografia cerebral na primeira semana de vida. Foram incluídos no estudo aqueles prematuros que necessitaram de internação hospitalar, e que tiveram o termo de consentimento informado assinado por um dos responsáveis. Foram excluídos aqueles cuja ultra-sonografia cerebral evidenciava sangramento cerebral e/ou malformações congênitas associadas, e os que evoluíram para óbito antes da realização do exame. Resultados: a ultra-sonografia cerebral levou à identificação de 65 recém-nascidos prematuros com hiperecogenicidade dos vasos talâmicos e de 141 recém-nascidos prematuros sem. Conclusões: a forma de apresentação do tipo pélvica ao nascimento, a maior idade gestacional, o maior peso do recém-nascido ao nascimento e a classificação grande para a idade gestacional foramfatores de risco para a ocorrência de hiperecogenicidade dos vasos talâmicos, enquanto a presença de hipertensão materna durante o período de gestação tendeu a ser fator de proteção. Os recém-nascidos que apresentaram crises convulsivas durante o período de internação hospitalar tiveram risco 3,2 vezes maior de ter hiperecogenicidade dos vasos talâmicos, quando comparados aos que nãoapresentaram crises convulsivas
Subject(s)
Humans , Male , Female , Infant, Newborn , Echoencephalography , Infant, PrematureABSTRACT
OBJECTIVE: The aim of this study is to evaluate possible pathologies associated with hyperechogenicity of thalamic vessels (HETV), which are found on brain ultrasounds (BUS), as well as to observe the frequency of their occurrence. METHODS: The sample was composed of 206 preterm newborn infants at Hospital de Clínicas de Porto Alegre (HCPA) from July 1998 to May 1999. All of them were submitted to BUS in the first week of life. Preterm children who needed hospital admission and had a term of informed consent signed up by their guardians were included in this study. Preterm newborn children with BUS showing intracranial hemorrhage and/or associated congenital malformation were excluded from this study. RESULTS: Through BUS it was possible to identify 65 preterm newborn children with HETV and 141 preterm newborn children without HETV. CONCLUSIONS: We identified the following risk factors for HETV: pelvic presentation, longer gestational period, increased birthweight and big for gestational age classification. On the other hand, mothers hypertension during the gestational period tended to protect infants from HETV. The newborn infants that presented convulsive crises during hospitalization had a 3.2-fold higher risk of having HETV when compared to the ones who did not go through any convulsive crises.
