SESSION TITLE: Pediatric Pulmonary Case Report Posters
SESSION TYPE: Case Report Poster
PRESENTED ON: Sunday, March 23, 2014 at 01:15 PM - 02:15 PM
INTRODUCTION: Portal vein thrombosis is a possible finding in abdominal ultrasound screening on patients with umbilical vein catheterisation, but is uncommon in othervise healthy newborns without intravenous treatment
CASE PRESENTATION: The authors present a case of an euthrophic term male newborn, with no symptoms, who underwent ultrasound screening before discharge and showed portal vein thrombosis, with good outcome after treatment with enoxaparine and oral acetilsalycilic acid. Family history revealed thrombophylia of mother, with 4 miscarriage and was heterozygous for the C677T and A 1298C MTHFR mutation. She was only on oral acetilsalicilic acid therapy during her pregnancy. Same genetic mutation was found in the infant, too
DISCUSSION: Mutation that involves both the C677T and the A1298T alleles is a “compound heterozygous” condition that occurs in approximately 17% of the population. In pregnant women the risk for miscarrieage is high, but with anti clotting agents, pregnancy may be carried to full term. Usually there are no thrombotic manifestations in the neonatal period, but the risk is present in the offspring with the same genetic disorder. In our case we assume that initial relative low fluid input and the presence of the genetic problem led to the forming of a clot in the portal vein.
CONCLUSIONS: Ultrasound screening in neonates, even asymptomatic ones can reveal lifethreating problems that need imediat intervention
Reference #1: Morag I, Epelman M, Daneman A, et al. Portal vein thrombosis in the neonate: risk factors, course, and outcome. J Pediatr. 2006 Jun;148(6):735-9.
Reference #2: Isotalo P.A. , Wells G.A., Donnelly J.G. Neonatal and Fetal Methylenetetrahydrofolate Reductase Genetic Polymorphisms: An Examination of C677T and A1298C Mutations. AJHG. 2000Oct.67(4):986-990
DISCLOSURE: The following authors have nothing to disclose: Marta Simon, Manuela Cucerea, Delia Tatar, Zsuzsanna Gall, Laura Suciu, Raluca Marian
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