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Chronic Pruritus in an 18-Month-Old Male Infant Due to Anicteric Cholestasis
Vishnu S Nair1, Venkatesh Chandrasekaran1, Barath Jagadisan1
1Department of Paediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry 605006, India.
Insights
A cholestatic liver disease case in an infant, initially misdiagnosed as eczema, highlights the importance of considering rare genetic conditions. Early diagnosis and treatment with ursodeoxycholic acid improved symptoms.
Area of Science:
- Pediatric Gastroenterology
- Hepatology
- Medical Genetics
Background:
- An 18-month-old infant presented with persistent pruritus unresponsive to standard eczema treatments.
- Clinical findings included excoriations and mild hepatomegaly, with blood tests indicating anicteric cholestatic liver disease.
Abstract:
An 18-month-old male infant was referred to us with pruritus from 6 months of age. He was being managed as atopic eczema with emollients and antihistamines without any response to treatment. On examination, he was found to have extensive scratch marks, mild hepatomegaly and no icterus. Blood investigations were suggestive of anicteric cholestatic liver disease. Liver biopsy was suggestive of progressive familial intrahepatic cholestasis type 3. He showed symptomatic improvement after starting ursodeoxycholic acid and fat-soluble vitamins and is under follow up.
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