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Case report
Ref Number: APCP-PP-250

A Rare Presentation of Seronegative Post-Infantile Giant Cell Hepatitis in a Child with Common Variable Immunodeficiency 8

DMDT Dissanayake¹, Thamodha Charuni Weerasinghe¹, Maheshika Navarathne¹, Prasad Godakanda¹, Sarojini Viknarajah Mohan¹
1- Lady Ridgeway Hospital for Children, Sri Lanka
Corresponding Author: DMDT Dissanayake (diluminithisera@gmail.com)
Abstract Body
Introduction: Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder characterized by impaired B-cell differentiation. Type 8, caused by mutations in theLRBA gene, is associated with significant immune dysregulation and autoimmunity . Seronegative post-infantile giant cell hepatitis is a rare hepatic manifestation in this context. Case presentation: A previously healthy 7-year-old boy presented with a history of jaundice,vomiting, and epistaxis. He was the T1 of twins born to consanguineous parents. On examination, he had pallor, icterus, and hepatosplenomegaly . investigations revealed pancytopenia with reticulocytosis and direct hyperbilirubinemia. The direct antiglobulin test was initially positive . Viral screening was negative. Thalassaemia and Wilson disease screening were normal. CT abdomen demonstrated hepatosplenomegaly without evidence of chronic liver disease. no portal hypertension either.Liver histology is consistent with post-infantile giant cell hepatitis. Autoimmune hepatitis antibody panel was negative. Serum immunoglobulin levels were within normal limits. Bone marrow biopsy excluded malignancy .Despite blood , platelets transfusions and intravenous im munoglobulin therapy , the patient deteriorated. Administration of intravenous methylprednisolone followed by oral prednisoloneled to marked improvement in cytopenias and liver function tests. A relapse occurred during steroid tapering in association with a viral infection but resolved along with recovery from the infection.Whole exome sequencing identified an autosomal recessive pathogenic LRBA gene variant, confirming CVID type 8. Conclusion: This case highlights Early recognition of immune dysregulation and timely initiation of immunosuppressive therapy were crucial in achieving remission.
Keywords: Cell hepatitis; Variable immunodeficiency 8; Rare presentation
Presentation Type: Case report
Disclaimer: The Views and opinions expressed in the articles are of the authors and not of the journal.
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