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A Rare Case of Possible Crigler–Najjar Syndrome Type 2

Year: 2025

Type: article

Abstract: Crigler-Najjar Syndrome (CNS) is a rare, congenital autosomal recessive disorder essentially impairing bilirubin metabolism. It is characterised by absence or decreased enzyme activity of UDP-glucuronosyltransferase due to mutation in UGT1A1 gene. This condition results in predominant indirect hyperbilirubinemia causing non haemolytic jaundice. CNS type 2 can manifest as prolonged jaundice in the neonatal period. Timely and precise diagnosis by enzyme analysis is important. Early diagnosis and adequate treatment can prevent the dangerous sequelae of kernicterus and irreversible brain damage and eventually, improve outcomes. Here, we report a rare case of possible Crigler Najjar Syndrome type 2.

Source: Journal of Clinical Neonatology

DOI: 10.4103/jcn.jcn_95_24

Authors: Sanjay Chavan, Sarnya Verma, Sudhir Malwade, Shailaja Mane, Abhinav Maheshwari

Institutions: Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D.Y. Patil Vidyapeeth, Pune

Language: English

Topic: Neonatal Health and Biochemistry

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4411896878

FWCI:

Cites: 13

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Related to: 10