Browsing by Author "Mendes, M."
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- Inquéritos de satisfação: Triagem de Manchester no Hospital de Santo AntónioPublication . Almeida, P.; Campelo, J.; Figueiredo, A.; Gonçalves, L.; Guedes, A.; Guimarães, N.; Laranjo, P.; Luís, D.; Mendes, M.; Monjardino, M.; Neto, J.; Pimenta, J.; Rebocho, M.; Soares, M.
- Prenatal Diagnosis of Infantile Neuroaxonal DystrophyPublication . Pinto, F.; Pina, C.; Rodrigues, M.; Carrilho, I.; Saraiva, J.; Mendes, M.; Santos, J.; Martins, M.Infantile Neuroaxonal Dystrophy (INAD1, MIM # 256600), is a rare autossomal recessive neurodegenerative disorder. The clinical picture is characterized by psychomotor regression and hypotonia, which progresses to spastic tetraplegia, visual impairment and dementia. Onset is within the first 2 years of life and death usually happens before the age of 10. In 2006, Morgan et al described that mutations in PLA2G6 gene localized in chromosome 22 (22q13), caused INAD1. Evidence showed that a large proportion of patients with infantile neuroaxonal dystrophy have a mutation in the PLA2G6 gene. A 36-years-old pregnant woman presented for obstetric follow up. It was the second pregnancy of this healthy, nonconsanguineous couple. Their 7 year-old daughter was affected with Infantile Neuroaxonal Dystrophy. Molecular testing was done in the child and, as a causal mutation was detected, it was possible to offer a specific prenatal diagnosis. The molecular study of PLA2G6 gene by amniocentesis showed the presence of a mutation in heterozygoty and the karyotype was normal for a female foetus. To our knowledge, this is the first molecular prenatal diagnosis of INAD1 in Portugal.
- Quisto Porencefálico após Hemorragia Intracraniana: Evolução Imagiológica pré e pós-natalPublication . Cunha, A.; Mendes, M.; Ramos, C.; Nogueira, R.; Martins, M.; Veloso, P.; Mendes, R.RESUMO A infecção por Citomegalovírus (CMV) é a infecçâo congénita mais frequente. As manifestações clínicas são variáveis e multisistémicas. Do envolvimento do sistema nervoso central (SNC) podem resultar microcefalia, calcificações e, mais raramente, hidranencefalia e porencefalia por destruição do tecido cerebral. Estes achados são geralmente de diagnóstico tardio em Diagnóstico Pré Natal (DPN) com manifestações ecográficas muitas vezes inespecíficas. Os autores descrevem os aspectos imagiológicos ultrasonográficos no período fetal, neonatal, e tomográfico pósnatal num caso de hemorragia parenquimatosa cerebral com evolução para quisto porencefálico por provável infecção por citomegalovirus. Este caso mostra que achados ecográficos inespecíficos pré-natais numa paciente de alto risco têm um valor preditivo alto para infecção fetal por citomegalovirus e também podem ter significado prognóstico. ABSTRACT CMV is the most common congenital infection. Clinical manifestations can be multiple and affect different organs. Microcephaly, intracranial calcifications and less frequently hydranencephaly and porencephaly can be a consequence of cerebral involvement. These anomalies are generally diagnosed late in pregnancy after prenatal sonographic signs of little sensitivity. In this report, we describe the prenatal and neonatal images of cerebral hemorrhage and porencephaly, presumed secondary to intrauterine cytomegalovirus infection.This case shows that subtle ultrasound findings in a high risk pregnant woman may be predictive of sequelae in infected fetuses.