S5884 Suspected Glycogen Storage Disease in a Young Adult With Cryptogenic Cirrhosis: A Case Report

Introduction: Glycogen storage diseases (GSD) are inherited metabolic disorders of carbohydrate metabolism. GSD type III (Cori’s disease) and type IV (Andersen’s disease) have been associated with liver cirrhosis and hepatocellular carcinoma. We describe a rare case of GSD and cirrhosis in a patient with a history of childhood seizures and hypoglycemia. Case Description/Methods: A 38-year-old man with no known medical history presented with intermittent hematochezia without abdominal pain, weight loss, or fever. He was hemodynamically stable with an unremarkable exam. Labs showed hemoglobin 13.8 g/dL, platelets 64,000/uL, international normalized ratio 1.3, alanine aminotransferase 158 U/L, aspartate aminotransferase 260 U/L. Alkaline phosphatase and gamma-glutamyl transferase were minimally elevated. C-reactive protein was 75.8 mg/dL. Computed tomography (CT) showed cirrhosis, portal hypertension, and splenomegaly. He denied herbal supplements, intravenous drug, or heavy alcohol use. Family history was non-contributory. Abdominal magnetic resonance imaging (MRI) revealed multiple enhancing liver lesions not seen on computed tomography 1 week prior, suggesting rapid development. Upper endoscopy showed large esophageal varices and portal hypertensive gastropathy. Colonoscopy showed mild portal colopathy and hemorrhoids. Workup for chronic liver disease was negative, including viral hepatitis, autoimmune markers, iron/copper studies, and tumor markers. Biopsy of the largest lesion and background tissue showed cirrhosis with ballooning degeneration, clear cell change, and glycogenated hepatocytes. PAS staining without diastase confirmed glycogen accumulation. No malignancy, steatosis, or iron/copper overload was seen. In absence of classic risk factors and unusual histology, rare causes of cirrhosis were considered. A family member later recalled childhood hypoglycemia and seizures, which had resolved without diagnosis. These, along with imaging and biopsy findings, raised suspicion for late-presenting GSD. Repeat MRI at 3 months showed complete resolution of the liver lesions, suggesting a metabolic rather than neoplastic process. Genetic testing was initiated for confirmation. Discussion: This case illustrates an atypical presentation of cryptogenic cirrhosis and portal hypertension in a young adult with suspected GSD. The spontaneous resolution of liver lesions, glycogenated hepatocytes, and childhood hypoglycemia support a metabolic etiology. GSD should be considered in unexplained liver disease, even in adults. Early recognition using detailed history and genetic testing is essential for management and counseling.