VOLUME 5 , ISSUE 3 ( July-September, 2023 ) > List of Articles
Jasna Nizar Raseena, Prasanth KN Sobhan, Ajith K Ananda Krishnan Sarasam
Keywords : Case report, Glycogen storage disorder IV, Progressive hepatic type, Liver transplantation
Citation Information : Raseena JN, Sobhan PK, Sarasam AK. A Rare Cause of Cirrhosis in a Toddler. Ann Pediatr Gastroenterol Hepatol 2023; 5 (3):45-46.
DOI: 10.5005/jp-journals-11009-0138
License: CC BY-NC 4.0
Published Online: 18-10-2023
Copyright Statement: Copyright © 2023; The Author(s).
Glycogen storage disorder (GSD) type IV, also called Anderson disease or amylopectinosis, is an uncommon autosomal recessive disease resulting from a deficiency of glycogen branching enzyme, causing accumulation of amylopectin-like glycogen, which could harm the affected tissues. The disorder is caused by a mutation in the GBE1 gene positioned in chromosome 3p12. The GSD IV patients showcase a continuum of various phenotypes with various ages of onset, clinical manifestations, severity, and organ involvement. The progressive hepatic type is the most common and classic presentation characterized by means of hepatomegaly and early progressive cirrhosis. The disease is diagnosed by the demonstration of glycogen branching enzyme deficiency in liver, muscle or skin fibroblasts, or the identification of biallelic pathogenic variants in GBE1 on molecular genetic testing. Clinically, the classic Anderson disease is a rapidly advancing disorder leading to terminal liver failure unless intervened. The disorder is distinctive in that liver transplantation has a favorable outcome in these patients, and early diagnosis is lifesaving. Here, we describe a case of progressive hepatomegaly with cirrhosis diagnosed to be GSD IV, underwent living donor liver transplantation and improved on follow-up.