Annals of Pediatric Gastroenterology and Hepatology ISPGHAN

Register      Login

VOLUME 5 , ISSUE 3 ( July-September, 2023 ) > List of Articles

CASE REPORT

A Rare Cause of Cirrhosis in a Toddler

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).


Abstract

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.


HTML PDF Share
  1. Massese M, Tagliaferri F, Dionisi-Vici C, et al. Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI. Orphanet J Rare Dis 2022;17(1):241. DOI: 10.1186/s13023-022-02387-6
  2. Sreekantam S, Rizvi H, Brown R, et al. An uncommon cause of early infantile liver disease and raised chitotriosidase. JIMD Rep 2020;54(1):22–24. DOI: 10.1002/jmd2.12123
  3. Chen Y. Glycogen storage disease. In: Scriver CR, Beaudet AS, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (Eds). The Metabolic and Molecular Basis of Inherited Disease, 8th edition. New York, NY: McGraw-Hill; 2001. pp. 1521–1551.
  4. Greene HL, Ghishan FK, Brown B, et al. Hypoglycemia in type IV glycogenosis: hepatic improvement in two patients with nutritional management. J Pediatr 1988;112(1):55–58. DOI: 10.1016/s0022-3476(88)80121-5
  5. Magoulas PL, EL-Hattab AW. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A (Eds). Glycogen Storage Disease Type IV. 2013.
  6. Koch RL, Soler-Alfonso C, Kiely BT, et al. Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: a clinical practice resource. Mol Genet Metab 2023;138(3):107525. DOI: 10.1016/j.ymgme.2023.107525
  7. Derks TGJ, Peeks F, de Boer F, et al. The potential of dietary treatment in patients with glycogen storage disease type IV. J Inherit Metab Dis 2021;44(3):693–704. DOI: 10.1002/jimd.12339
  8. Liu M, Sun LY. Liver transplantation for glycogen storage disease type IV. Front Pediatr 2021;9:633822. DOI: 10.3389/fped.2021.633822
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.