Inspissated Bile Syndrome and Crigler–Najjar Syndrome Type II: When Two Rare Conditions Converge

TL;DR

A rare case shows how a mother's untreated liver condition can lead to a severe bile disorder in her newborn, highlighting the need for proper prenatal care.

Contribution

This paper presents a unique case where maternal Crigler–Najjar Syndrome Type II likely caused neonatal Inspissated Bile Syndrome.

Findings

The neonate exhibited cholestasis and direct hyperbilirubinemia, likely due to maternal CNS-II.

Treatment with ursodeoxycholic acid normalized the neonate's bilirubin levels.

The neonate showed normal growth and neurological development at 6 months.

Abstract

Inspissated bile syndrome (IBS) is a rare neonatal condition characterized by thickened bile leading to cholestasis, while Crigler–Najjar syndrome type II (CNS-II) is an autosomal recessive disorder resulting in unconjugated hyperbilirubinemia. Both conditions pose significant risks, particularly when they converge during pregnancy.

We report a unique case involving a 20 day-old female neonate born to a mother with CNS-II who discontinued phenobarbital treatment during pregnancy. The mother presented with elevated indirect bilirubin levels (total 32, and direct 0.4 mg/dL) and normal liver function test, while the neonate exhibited prolonged jaundice and cholestasis with direct hyperbilirubinemia (total 8, and direct 5.4 mg/dL) upon admission. Treatment included ursodeoxycholic acid for the neonate, leading to normalization of bilirubin levels. The neonate's growth and neurological development remained normal at 6 months.

This case emphasizes the significant risks associated with untreated CNS-II during pregnancy, which likely contributed to the neonate's IBS. Existing literature highlights the importance of maternal management in preventing severe neonatal complications associated with hyperbilirubinemia.

This case highlights the importance of timely intervention in managing maternal metabolic disorders during pregnancy to improve neonatal health. Further research is essential to develop optimal treatment strategies for such cases.