Unique presentation of neonatal liver failure: A case report

Area of Science:

• Neonatology
• Hepatology
• Pediatric Gastroenterology

Background:

• Acute fulminant liver failure is rare in neonates.
• Known causes include viral infections, metabolic/genetic diseases, hematologic disorders, and ischemic injury.
• Gestational alloimmune liver disease and empty liver failure are specific causes of neonatal liver failure.

Observation:

• A 5-week-old male infant presented with jaundice and direct hyperbilirubinemia.
• Laboratory tests showed a deranged coagulation profile with normal transaminases and ammonia.
• Abdominal MRI suggested perinatal hemochromatosis, but liver biopsy revealed histiocytic infiltration with absent hepatocytes.

Findings:

• The liver biopsy demonstrated a complete absence of hepatocytes, a key feature of empty liver failure.
• Despite suspicion of hemochromatosis, hemosiderin deposition was not found in buccal mucosa.
• The patient's presentation highlights a unique form of neonatal liver failure.

Implications:

• Neonatal liver failure without hepatocellular regeneration may indicate an underlying defect in liver regeneration.
• Further research is needed to identify acquired or inborn causes of impaired hepatic regeneration.
• Understanding these defects is crucial for diagnosing and managing rare neonatal liver conditions.