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Published on: May 7, 2015
Congenital intrahepatic porto-systemic venous shunt with galactosemia
Kushaljit Singh Sodhi1, Babu Ram Thapa, Anuj Walia
1Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh 160 012, India. sodhiks@rediffmail.com
Insights
A congenital intrahepatic porto-systemic venous shunt and galactosemia caused cholestatic jaundice in an infant. Treatment with ursodeoxycholic acid, calcium, and a galactose-free diet resolved symptoms within six weeks.
Area of Science:
- Pediatric Gastroenterology
- Hepatology
- Medical Genetics
Background:
- Congenital intrahepatic porto-systemic venous shunt is a rare vascular anomaly.
- Galactosemia is an inherited metabolic disorder affecting galactose metabolism.
- Cholestatic jaundice in infants can result from various underlying conditions.
Observation:
- A 51-day-old infant presented with cholestatic jaundice.
- The infant had a diagnosed congenital intrahepatic porto-systemic venous shunt.
- The infant also had galactosemia.
Findings:
- The combined conditions of shunt and galactosemia led to severe cholestatic jaundice.
- Treatment involved ursodeoxycholic acid, calcium supplementation, and a strict galactose-free diet.
- The infant showed a complete clinical recovery and remained asymptomatic.
Implications:
- This case highlights the importance of considering metabolic disorders like galactosemia in infants with vascular anomalies and cholestasis.
- Early diagnosis and appropriate management, including dietary intervention, are crucial for favorable outcomes.
- Further research may explore the interplay between vascular anomalies and metabolic diseases in pediatric liver conditions.
Abstract:
We report a 51-day-old infant with congenital intrahepatic porto-systemic venous shunt associated with galactosemia, who presented with cholestatic jaundice. He was treated with ursodeoxycholic acid, calcium supplements and galactose-free diet. The child was asymptomatic six weeks later.
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