A rare case of Crigler-Najjar syndrome type 2: A case report and literature review.

Key Clinical Message: Crigler-Najjar syndrome type 2 should be suspected in any young patient presenting with isolated indirect hyperbilirubinemia where all other common etiologies have been excluded. It is a relatively benign condition that responds to phenobarbitone. Abstract: Crigler-Najjar syndrome (CNS) type 2 is an inborn cause of isolated indirect hyperbilirubinemia characterized by a partial deficiency of the enzyme uridine 5'-diphosphate-glucuronosyltransferase (UGT) responsible for bilirubin conjugation. Typically, this condition is diagnosed based on clinical manifestations, supplemented by enzyme analysis if feasible, and exhibits a significant response to phenobarbitone, known for its enzyme-inducing properties. In this case, we present a young male patient who had experienced recurrent isolated indirect hyperbilirubinemia since early childhood, with negative results in the hemolytic workup. The patient exhibited a UGT1A1 gene defect and demonstrated a highly favorable response to phenobarbitone treatment. The purpose of this report is to raise awareness among physicians about this benign condition and underscore the importance of avoiding unnecessary investigations.

Secondary Prevention of Rheumatic Heart Disease in Nepal: Are We Going Backward?

A secondary level of prophylaxis has proven to be the most successful in Nepal, a country with an endemic rate of rheumatic heart disease, in combating the severe issues associated with rheumatic heart disease. The use of benzathine penicillin G in secondary prophylaxis of rheumatic heart disease, recommended by several guidelines, has been increasingly abandoned in Nepal due to a lack of national guidelines and the termination of the prior programs. The use of oral penicillin and alternative oral antibiotics, which are less effective in preventing the recurrence of acute rheumatic fever, is on the rise. Nepal urgently needs to develop new national guidelines and ensure their effective implementation in order to slow the increase in the number of rheumatic heart disease patients. In this article, we explore the limitations, challenges, and advantages of using the consensus-supported intramuscular benzathine penicillin G as the first-line drug for the secondary prevention of rheumatic heart disease.