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PP-259. Early diagnosis of homocystinuria in a newborn with mosaic Turner syndrome and immune hydrops fetalis
S120
Abstracts
(16.6%) neonates, and in 3 cases (12.5%) three or more transfusions were necessary. Exchange transfusions were not needed in 6 cases (25%), and 20 newborns (83.3%) did not require supplementary transfusions.
easily by metabolic screening. In conclusion, the use of paper chromotography may be a common practice in countries where consanguineous marriage and metabolic diseases are commonly seen.
doi:10.1016/j.earlhumdev.2010.09.315 Conclusions Intrauterine fetal transfusions are an effective method of treating hemolytic disease. It decreases the incidence of hydrops fetalis and severe hemolytic anemia, reduces the number of exchange and supplementary transfusions in newborns.
doi:10.1016/j.earlhumdev.2010.09.314
PP-260. Impact of birth weight increments on short-term outcome of very low birth weight and extremely low birth weight infants Maria Magalhaes, Clara Machado, Daria Rezende, Carla Sa, Albina Silva, Eduarda Abreu, Matos Marques, Bernardete Fernandes, Almerinda Pereira Neonatal Intensive Care Unit, Paediatrics Department, Braga's Hospital, Portugal Aim
PP-259. Early diagnosis of homocystinuria in a newborn with mosaic Turner syndrome and immune hydrops fetalis Ozge Surmeli Onaya, Burcu Ozturk Hısmıb, Sahin Takcıa, Sule Yigita, Turgay Coskunb a Hacettepe University Department of Pediatrics, Neonatology Unit, Turkey b Metabolism Unit, Ankara, Turkey
Newborns with very low birth weight(VLBW) and particularly extremely low birth weight(ELBW) have higher risk of complications because of their anatomic and functional immaturity. This risk increases with decreasing birth weight(BW) and gestational age(GA). This work aims to determine the influence of BW of ELBW and VLBW infants in hospitalization days, mechanical ventilation(MV), parenteral nutrition (PN) and its impact on development of short-term complications.
Aim
Materials and methods
Homocystinuria is a rare inborn error of amino acid metabolism affecting energy supply on the cellular level. Neonatal screening affords the opportunity to diagnose homocystinuria early before the patient becomes clinically symptomatic. Early diagnosis improves outcome in homocystinuria, avoiding the complications including thrombotic disease that occur with delayed treatment.
Cross-sectional study with medical files review of ELBW (<1000 g) and VLBW(1000–1499 g) admitted to our Neonatal Unit from 01/07/2006–30/06/2009. For statistical analysis was used SPSS 17.0. We applied chi-square test, Student's t-test, multiple linear regression and logistic regression as appropriate. Results
Case presentation 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. Conclusion It is known that early detection reduces the development of ocular complications in homocystinuria. This can not achieved by good biochemical control alone, because lens dislocation still developing in children if treatment starts outside the neonatal period. It is noteworthy that despite exchange transfusion, homocystinuria could be diagnosed
Total number of newborns was 83, 43.4%(n = 36) ELBW and 56.6% (n = 47) VLBW. Comparing the groups, mean hospitalization days was 84.2 ± 77.3 in ELBW and 37 ± 13.8 in VLBW infants(p = 0.003). Mean GA was 27.2vs30.6 weeks(p < 0.001). No significant differences between two groups were found regarding to gender(♂/ ♀ = 24/12 vs. 25/22). Adjusting for GA and gender, for each 100 g increase in BW there was a decrease of 6.3 days in hospitalization (p = 0.02), 1.5 days of MV(p = 0.021) and 2.2 days of PN(p = 0021). BW was the main determinant of hospitalization days, MV and PN. We found that BW didn't increase the likelihood of developing shortterm complications (intraventricular hemorrhage, respiratory abnormalities, necrotizing enterocolitis, infection and retinopathy of prematurity). In this analysis, the most important determinant was GA, even adjusting for gender, number of hospitalization days and BW, particularly as regards the likelihood of developing intraventricular hemorrhage(p = 0.002) and hyaline membrane disease (p = 0.002). Conclusions Despite advances in neonatal care provided to VLBW and ELBW, the best intervention to reduce morbidity and mortality is to prevent premature birth. Thus, facing the threat of preterm delivery of fetuses with VLBW and especially with ELBW, efforts should be made to prolong gestation and increase their weight.
doi:10.1016/j.earlhumdev.2010.09.316
Abstracts
(16.6%) neonates, and in 3 cases (12.5%) three or more transfusions were necessary. Exchange transfusions were not needed in 6 cases (25%), and 20 newborns (83.3%) did not require supplementary transfusions.
easily by metabolic screening. In conclusion, the use of paper chromotography may be a common practice in countries where consanguineous marriage and metabolic diseases are commonly seen.
doi:10.1016/j.earlhumdev.2010.09.315 Conclusions Intrauterine fetal transfusions are an effective method of treating hemolytic disease. It decreases the incidence of hydrops fetalis and severe hemolytic anemia, reduces the number of exchange and supplementary transfusions in newborns.
doi:10.1016/j.earlhumdev.2010.09.314
PP-260. Impact of birth weight increments on short-term outcome of very low birth weight and extremely low birth weight infants Maria Magalhaes, Clara Machado, Daria Rezende, Carla Sa, Albina Silva, Eduarda Abreu, Matos Marques, Bernardete Fernandes, Almerinda Pereira Neonatal Intensive Care Unit, Paediatrics Department, Braga's Hospital, Portugal Aim
PP-259. Early diagnosis of homocystinuria in a newborn with mosaic Turner syndrome and immune hydrops fetalis Ozge Surmeli Onaya, Burcu Ozturk Hısmıb, Sahin Takcıa, Sule Yigita, Turgay Coskunb a Hacettepe University Department of Pediatrics, Neonatology Unit, Turkey b Metabolism Unit, Ankara, Turkey
Newborns with very low birth weight(VLBW) and particularly extremely low birth weight(ELBW) have higher risk of complications because of their anatomic and functional immaturity. This risk increases with decreasing birth weight(BW) and gestational age(GA). This work aims to determine the influence of BW of ELBW and VLBW infants in hospitalization days, mechanical ventilation(MV), parenteral nutrition (PN) and its impact on development of short-term complications.
Aim
Materials and methods
Homocystinuria is a rare inborn error of amino acid metabolism affecting energy supply on the cellular level. Neonatal screening affords the opportunity to diagnose homocystinuria early before the patient becomes clinically symptomatic. Early diagnosis improves outcome in homocystinuria, avoiding the complications including thrombotic disease that occur with delayed treatment.
Cross-sectional study with medical files review of ELBW (<1000 g) and VLBW(1000–1499 g) admitted to our Neonatal Unit from 01/07/2006–30/06/2009. For statistical analysis was used SPSS 17.0. We applied chi-square test, Student's t-test, multiple linear regression and logistic regression as appropriate. Results
Case presentation 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. Conclusion It is known that early detection reduces the development of ocular complications in homocystinuria. This can not achieved by good biochemical control alone, because lens dislocation still developing in children if treatment starts outside the neonatal period. It is noteworthy that despite exchange transfusion, homocystinuria could be diagnosed
Total number of newborns was 83, 43.4%(n = 36) ELBW and 56.6% (n = 47) VLBW. Comparing the groups, mean hospitalization days was 84.2 ± 77.3 in ELBW and 37 ± 13.8 in VLBW infants(p = 0.003). Mean GA was 27.2vs30.6 weeks(p < 0.001). No significant differences between two groups were found regarding to gender(♂/ ♀ = 24/12 vs. 25/22). Adjusting for GA and gender, for each 100 g increase in BW there was a decrease of 6.3 days in hospitalization (p = 0.02), 1.5 days of MV(p = 0.021) and 2.2 days of PN(p = 0021). BW was the main determinant of hospitalization days, MV and PN. We found that BW didn't increase the likelihood of developing shortterm complications (intraventricular hemorrhage, respiratory abnormalities, necrotizing enterocolitis, infection and retinopathy of prematurity). In this analysis, the most important determinant was GA, even adjusting for gender, number of hospitalization days and BW, particularly as regards the likelihood of developing intraventricular hemorrhage(p = 0.002) and hyaline membrane disease (p = 0.002). Conclusions Despite advances in neonatal care provided to VLBW and ELBW, the best intervention to reduce morbidity and mortality is to prevent premature birth. Thus, facing the threat of preterm delivery of fetuses with VLBW and especially with ELBW, efforts should be made to prolong gestation and increase their weight.
doi:10.1016/j.earlhumdev.2010.09.316