We discuss the use of magnetic resonance imaging (MRI) to reveal early fetal neurological involvement of cytomegalovirus (CMV) infection. A woman presented at 21 weeks of pregnancy with active CMV infection. Cerebral ultrasound examination had been normal. An MRI scan revealed a thickened germinal matrix, which was histologically confirmed, associated with underdevelopment of the gyri. Brain MRI proved particularly useful in identifying the findings not disclosed by routine ultrasound during pregnancy and subsequently confirmed at histology.

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Our study aimed to combine in vivo foetal cerebral magnetic resonance findings and histopathological analysis to chart details of the development and characteristics of the germinal matrix not disclosed by ultrasound, and to establish standard normal parameters for in vivo investigation. We enrolled pregnant women between the 18th and 23rd weeks of gestation awaiting voluntary termination of pregnancy. The patients had a foetal cerebral magnetic resonance scan and the aborted foetus subsequently underwent autopsy. Both investigations focused on the germinal matrix, measured at the floor of the lateral ventricles, to disclose any impairment of neuronal migration. Three foetuses were chosen for the study, one presented CMV infection with multiorgan involvement disclosed at autopsy. The brain, however, did not show signs of infection but presented impaired sulcal formation compared to brains of the same gestational age. This finding had not been disclosed by MRI. The study is still underway but our preliminary findings show that magnetic resonance clearly displays the germinal matrix and can measure its thickness but does not yield accurate information on sulcal formation early in pregnancy. Autopsy subsequently demonstrated that failure of neuronal migration in the foetus results in a thicker germinal matrix whereas the cortex is thinner and underdeveloped. This finding emphasizes that migration abnormalities are not disclosed by MRI confined to macroscopic assessment of sulcal formation, especially in the early stages of pregnancy (18–22 weeks), but can be suspected and indirectly diagnosed by measurement of germinal matrix thickness. Our study showed that MRI is highly sensitive in identifying the germinal matrix and cerebral cortex and can measure these structures to yield new information for the diagnosis of impaired neuronal migration.

A Síndrome de Moyamoya (SMM) é uma condição cerebrovascular rara, que acomete principalmente pessoas de origem japonesa, no sexo feminino. Moyamoya é um termo de origem japonesa que significa “nevoeiro”, devido aos achados angiográficos em que são formados vasos colaterais com alterações do fluxo. Há a possibilidade de estenose bilateral e progressiva, com consequente oclusão da porção distal da artéria carótida interna e seus ramos, sendo comum achados de tromboses, isquemias transitórias de repetição e hemorragias intraparenquimatosas. Por se tratar de uma doença rara, de etiologia não descrita totalmente e por suas repercussões clínicas, este caso visa estudar esta patologia e sua inclusão como diagnóstico diferencial de déficit neurológico súbito, com hipótese de acidente vascular cerebral (AVC) em pacientes jovens, especialmente em portadores Síndrome de Down (SD). Com isso, através do diagnostico precoce e seu consequente tratamento, pode-se obter um melhor prognóstico, acarretando assim melhor qualidade de vida do paciente e de seus familiares e reduzindo o risco de recorrência.

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