Acute encephalopathy bilirubin in the first week of life: A case of G6PD-deficient neonate

Abstract

Background. Acute bilirubin encephalopathy is an acute neurological manifestation due to indirect bilirubin deposits in the basal ganglia and brainstem nuclei. In several developed countries, the incidence reaches 0.6-2.5 cases/100,000 births, while a recent study in 8 hospitals in Indonesia showed an incidence rate of 2%. In this paper, we describe an acute bilirubin encephalopathy in a neonate with G6PD deficiency. Case Presentation. A 5-day-old male neonate was admitted to the ER with recurrent generalized tonic seizures which started 6 hours prior to admission. Post seizure, the neonate cried then fell asleep. He had seemed less active and did not want to breastfeed for the last 12 hours. The neonate was born at full term (3160 grams) by a spontaneous vaginal delivery in the hospital, APGAR score 7/9, mother blood type AB+. He was exclusively breastfed with adequate intake. Physically examined, the neonate was lethargic with flat anterior fontanelle, Kramer V jaundice, fever, hypertonia, decreased sucking reflex, physiologic reflexes +2/+2, Babinski +/+, without cranial nerve paresis. Laboratory results of total bilirubin 44.79 mg/dL (indirect 43.04 mg/dL; direct 1.75 mg/dL), Hb 14.2 g/dL, WBC 15,000/μL, reticulocytes 124,500/μL, negative Coombs’s test, blood type A+, peripheral blood morphology within normal limits. The neonate was planned for exchange transfusion, intensive (triple) phototherapy was performed while waiting for the exchange transfusion. Bilirubin levels fell significantly within 12 hours after phototherapy initiation. Phototherapy was continued, the neonate was discharged on the seventh day of hospitalization in good condition. During treatment, etiology tracking was performed towards G6PD (G6PD level: 6.6 U/dL). Conclusion. Acute bilirubin encephalopathy is a rare morbidity found in newborns. ABE that occurs in the first week of life, prompt further investigations other than physiologic jaundice. Most frequent etiologies are ABO incompatibility, G6PD deficiency, sepsis and hereditary spherocytosis. In this case, we found G6PD as the cause of acute bilirubin encephalopathy in the first week of life.

Keywords

• bilirubin encephalopathy
• g6pd deficiency
• hyperbilirubinemia