[A case of neonatal liver failure]

Area of Science:

• Neonatology
• Pediatric Gastroenterology
• Medical Genetics

Background:

• Neonatal liver failure is a critical condition requiring prompt diagnosis and management.
• Congenital hepatic fibrosis (CHF) is a rare genetic disorder typically presenting later in childhood, but its role in neonatal liver failure is under-investigated.

Observation:

• A full-term male infant presented with jaundice, abdominal distension, hepatosplenomegaly, and ascites at 28 days of age.
• The infant rapidly progressed to liver failure, coagulopathy, and thrombocytopenia despite comprehensive medical interventions.
• Whole-exome sequencing did not reveal causative genetic variants for the liver failure.

Findings:

• Postmortem liver pathology strongly suggested congenital hepatic fibrosis (CHF) as the underlying cause.
• The clinical presentation of CHF leading to neonatal liver failure is exceptionally rare.

Implications:

• This case underscores the importance of considering rare genetic conditions like CHF in the differential diagnosis of neonatal liver failure.
• Further research into the genetic basis and clinical spectrum of CHF is crucial for improving diagnostic accuracy and therapeutic strategies in affected infants.
• A multidisciplinary approach is essential for managing complex cases of neonatal liver failure.