ABSTRACT
A full term baby developed indirect hyperbilirubinemia within first 12 hours of life. Hence, capsule phototherapy was started and investigations were done to find out the cause. There was a history of death of previous sibling apparently due to neonatal jaundice. Mother's blood group was A positive, baby's blood group was A negative and DCT was negative. Reticulocyte count was 34%. The baby had low hemoglobin and high MCHC. Hence, diagnosis of neonatal non-immune hemolytic jaundice was considered. Most likely causes were G-6 PD deficiency and hereditary spherocytosis. With capsule phototherapy indirect hyperbilirubinemia was under control with peak TSB level of 22.6 mg/dl on 3[rd] day of life, dropping to 8.5 mg/dl on 12[th] day of life. In addition, single volume exchange blood transfusion was carried out on 5[th] day. The baby remained clinically well throughout hospital stay and was taking breastfeeding well. The baby had bronze grayish color of skin, which could be due to component of direct hyperbilirubinemia present as a result of excessive hemolysis. G-6 PD quantitative test was normal. Peripheral smear done on 4th day showed moderate anisopoikilocytosis with spherocytosis and polychromasia with frequent presence of NRBCs. The percentage of spherocytes were 8% of red cells. In view of above clinical picture and laboratory findings, diagnosis of hereditary spherocytosis was considered. In hereditary spherocytosis, there is alteration of red cell membrane due to genetic defect causing deficiency of cell membrane protein and reducing their deformability1. It affects about 1 in 2000 in Europe and North America. Most cases are autosomal dominant and are mild to moderate in severity with small number of cases being autosomal recessive and having severe form of the disease. Our case probably belongs to autosomal recessive type in view of severe clinical symptoms, family history of sibling who died of severe jaundice in the neonatal period and history of consanguinity between the parents [they were cousins]
ABSTRACT
A case of resistant hypoglycemia in a newborn is presented and the evaluation and management of this rare condition is discussed. Baby was born premature at 34 weeks gestational age and was diagnosed with grade 3 respiratory distress syndrome. He was ventilated and received 2 doses of Survanta. Baby had hypoglycemic episodes from the first day as detected by glucometer and confirmed by laboratory test on venous blood. Baby needed glucose infusion rate up to 13 mg/kg/min by 5th day along with feeds to maintain sugar levels. Hypoglycemic episodes continued despite high glucose infusion rate, full feeds and hydrocortisone. Hence, he was diagnosed as a case of resistant and prolonged hypoglycemia and started on intravenous octreotide. Blood glucose was maintained on intravenous octreotide and glucose infusion rate could be decreased to 7 mg/kg/min. Baby's serum insulin level was very high [317 microU/ml] with corresponding blood glucose of 48 mg/dl. There is a family history of resistant hypoglycemia in one of his cousin sister and history of consanguinity between his parents. Genetic test was done which showed nonsense mutation of ABCC8 gene confirming diagnosis of autosomal recessive congenital hyperinsulinism. Plan is to do subtotal pancreactomy to decrease insulin level. Resistant and prolonged hypoglycemia in a neonate is defined as a hypoglycemia persisting despite glucose infusion rates of 12 mg/kg/min for more than 24 hours and hypoglycemia persisting beyond 7 days of life respectively. Our case had resistant and prolonged hypoglycemia secondary to hyperinsulinism. His blood sugars were under control with the help of hydrocortisone and octreotide in addition to glucose infusion and feeding. Genetic tests were carried out in view of family history of similar presentation in the cousin sister and history of consanguinity in his parents. It confirmed the diagnosis of autosomal recessive congenital hyperinsulinism and he carries same mutation as his affected cousin sister [homozygous mutation in ABCC8 gene]. He underwent subtotal pancreactomy one month back. He is now 5 months old and is on injection octreotide and gastrostomy feeds