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Congenital hepatic fibrosis with gastrointestinal bleeding in early infancy
Insights
Congenital hepatic fibrosis in infants can cause severe gastrointestinal bleeding. Early detection of esophageal varices is crucial, even in very young children with this rare condition.
Area of Science:
- Pediatric Gastroenterology
- Hepatology
- Nephrology
Background:
- Congenital hepatic fibrosis (CHF) is a rare inherited liver disease.
- It typically presents with portal hypertension, leading to complications like gastrointestinal bleeding and cholangitis.
- While often diagnosed later, CHF can manifest in early infancy.
Observation:
- A 19-month-old infant presented with severe gastrointestinal bleeding due to portal hypertension.
- The infant also experienced recurrent cholangitis and cystic renal dysplasia.
- Renal function remained unimpaired despite kidney abnormalities.
Findings:
- The case highlights the extreme rarity of life-threatening gastrointestinal bleeding from CHF in infants under three years old.
- Surgical intervention was necessary due to the severe clinical course.
- Esophageal varices were identified as the cause of bleeding.
Implications:
- This case underscores the importance of screening for esophageal varices in all infants diagnosed with congenital hepatic fibrosis.
- Early identification and management of varices are critical for preventing severe hemorrhage.
- Prompt diagnosis and intervention can improve outcomes in pediatric cases of CHF.
Abstract:
We report a case of a 19-month-old infant with congenital hepatic fibrosis. The clinical features consisted of portal hypertension with massive gastrointestinal bleeding, recurrent cholangitis, and cystic dysplasia of the kidneys, without impairment of renal function. The dramatic course of the disease required surgical treatment. Congenital hepatic fibrosis with life-threatening gastrointestinal bleeding is extremely rare below three years of age. The purpose of the present report is to stress the need of looking for varices in all cases of congenital hepatic fibrosis, even when occurring in early infancy.