Unremitting Neonatal Jaundice: A Diagnostic Challenge

A late preterm male neonate, weighing 2300 g, was delivered vaginally at 34 weeks of gestation to a 25-year-old primigravida in a nonconsanguineous marriage due to prolonged prelabor rupture of membranes. The antenatal period was uneventful with regular antenatal visits. The neonate was vigorous at birth and was shifted with the mother to the postnatal unit. The neonate was discharged after an uneventful postnatal period at 48 h of delivery on exclusive breastfeeding. There was no follow-up immediately postdischarge from the hospital. On day of life 7, the mother noticed yellowish discoloration of the neonate’s trunk, followed by the sclera, for which she approached the pediatrician. Following the preliminary evaluation, the neonate was referred to our hospital for the management of severe jaundice. At admission, the head circumference and length were 32 cm and 40 cm, respectively (both falling between the 50 th and 95 th percentiles on the modified Fenton’s chart). The total serum bilirubin was reported to be critically high with value of 35 mg/dL of which the indirect component is 32.9 mg/dL. Clinical examination reveals persistent irritability, generalized hypertonia, retrocollis, and occasional opisthotonus with bilirubin-induced neurological dysfunction score of three. There was no hepatosplenomegaly, pallor, bleeding tendency, or clinical seizure. There was no dysmorphism noted in the neonate. Maternal and neonate blood groups are B-positive. The direct Coombs test was negative. The preliminary evaluation revealed the diagnosis of nonhemolytic jaundice. The Whole exome sequence revealed the mutation of uridine glucuronosyltransferase 1A1, suggesting the diagnosis of Crigler–Najjar (CN) Syndrome. We report a rare case of genetically confirmed CN syndrome type 2 (CN-2) presenting with severe hyperbilirubinemia and kernicterus, emphasizing the importance of early follow-up and genetic evaluation in persistent neonatal jaundice, the case discussed describes the rare combination of symptoms that CN-2, despite being the milder form, can still lead to catastrophic neurological injury when the diagnosis is delayed and hyperbilirubinemia is left untreated. It underscores the critical need for a high index of suspicion and immediate, aggressive intervention for severe neonatal jaundice before the definitive subtyping is achieved, to prevent irreversible brain damage.