PP-259. Early diagnosis of homocystinuria in a newborn with mosaic Turner syndrome and immune hydrops fetalis

Abstract

Herein, we present a female newborn baby with immune hydrops fetalis who incidentally early diagnosed as homocystinuria upon detection of increased methionine on blood paper chromatography. She was born by caesarian section at 35.2 weeks' gestation to a 34year-old gravida 9, now para 3 mother. Previous six gestations of the mother resulted in intrauterine exitus or postpartum exitus due to Rh hemolytic disease. She had received intrauterine transfusions five times during pregnancy. The genetic analysis of cordocentesis before intrauterine transfusion revealed that the baby was mosaic Turner syndrome. The initial CBC revealed a hematocrit of 18.8%, hemoglobin 6.8 g/dL, MCV 82.2 fL, RDW 15.1%, WBC 17.200/μL, platelets 173.000/ μL, Total/direct bilirubine 5.92/0.01 mg/dL. After an umbilical venous catheter placement, exchange transfusion was performed. Following exchange transfusion intravenous immunoglobuline was given and phototherapy was started. And the baby improved well. Hypermethioninemia is detected on blood paper chromotography and serum homocysteine level showed homocystinuria. On mutation analysis, the baby was found to be homozygous for the mutation, SER349ASN in CBS (cystation beta syntase) gene. Pridoxine treatment was started.