RESUMO
Fatal cerebral hemorrhage involving the left thalamus in a neonate was attributed to deep cerebral vein thrombosis. Although antithrombin levels were at the lower end of the normal range, family and genetic studies showed constitutional type I antithrombin deficiency related to a novel missense mutation in the antithrombin gene.
Assuntos
Antitrombinas/deficiência , Hemorragia Cerebral/genética , Mutação Puntual , Antitrombinas/genética , Evolução Fatal , Humanos , Recém-Nascido , Masculino , Trombose Venosa/complicaçõesRESUMO
OBJECTIVE: The objective of this study was to determine the specificity and the sensitivity of electroencephalography's positive rolandic sharp waves (PRSW) for the diagnosis of cystic and noncystic periventricular leukomalacia (PVL). METHODS: A retrospective study was performed on a population of 765 premature infants alive after 5 days who were divided into two groups; 166 infants born before 28 weeks (group 1) and 599 born between 28 and 32 completed weeks' gestation (group 2). Each infants underwent repeated ultrasound scanning and electroencephalography recordings during the first weeks of life. Magnetic resonance imaging was performed in infants with persisting hyperechoic periventricular densities on ultrasonography. RESULTS: A total of 83 (10.8%) newborns had PVL; 65 (8.5%) had cystic PVL PRSW, observed in 55 (7.2%) infants, always preceded the ultrasonic detection of cysts. PRSW were very specific markers of PVL in both groups (100% in group 1, 99.8% in group 2). PRSW sensitivity was found dependent on gestational age: 32.4% in group 1 in contrast to 87.8% in group 2. CONCLUSION: PRSW are an early and very specific marker of PVL in premature infants.