Case of the Puzzling Jaundice: Can Doctors Solve This 7-Month-Old's Mystery?

Case of the Puzzling Jaundice: Can Doctors Solve This 7-Month-Old's Mystery?
This title is more dramatic and creates intrigue. It emphasizes the puzzling nature of the recurring jaundice and highlights the challenge faced by doctors in solving the case.
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#pediatrics #jaundice #mysterycase #medicalcase #doctorlife #bilirubin #neonatology #g6pd #pyruvatekinase #hemoglobinelectrophoresis #differentialdiagnosis #medicalmystery #Educational

[@DZ-ur4zn]

Crigler najjar

[@Pediatriconcall]

Since our patient responded to phenobarbitone, the clinical diagnosis most likely in our patient is Crigler-Najjar syndrome type 2. Since patients with Crigler-Najjar syndrome type II are much less likely to develop neurologic consequences than those with type I disease,3 specific treatment for the hyperbilirubinemia may be unnecessary.
Join the Discussion: www.pediatriconcall.com/grand-round/new/recurrent-hyperbilirubinemia-in-an-infant/149

[@DrkathyDavis]

Jaundice skin rash phenobarbital is having seizures😅.

[@naseembaloch1359]

Billiary atresia?
Breast milk jaundice

[@Pediatriconcall]

The diagnostic evaluation should establish whether the hyperbilirubinemia is unconjugated, conjugated or mixed. If it is unconjugated like in our patient, one should look for anemia and if present, evaluate for hemolysis, and then for specific hemolytic disorders. If there is no anemia, the patient should be evaluated for the possibility of underlying liver disease or inherited disorders of impaired bilirubin conjugation. Normal liver function tests will rule out underlying liver disease and points towards inherited disorders. Recurrent indirect hyperbilirubinemias in an infant can be caused by two autosomal recessive disorders- Gilbert syndrome and Crigler-Najjar syndrome. Both of these are 2 ends of the same spectrum. In the above case, considering the symptoms and response to phenobarbitone, the most likely diagnosis is Crigler-Najjar syndrome type II.
Please refer to the link below to learn more about the case and to know how we have reached the diagnosis- www.pediatriconcall.com/grand-round/new/recurrent-hyperbilirubinemia-in-an-infant/149