OBJECTIVE: Glycogen storage disease (GSD) is a group of disorder which involved glycogenesis, glycogenolysis or glycolysis pathway. It has 14 types based on the enzyme that is deficient and can affect liver, muscle, or both. The definite diagnosis is made through genetic mutation analysis, which is not yet available Indonesia. Commonly, the diagnosis was made based on anamnesis, physical examination, laboratory, and, especially, after a liver biopsy. This case report was made to report a rare case of GSD with hepatomegaly as a sole clinical sign.
CASE: An 11 month-old girl was brought to the gastroenterohepatology outpatient clinic because of abdominal enlargement started from the age of seven. No other symptom was revealed. On physical examination, we found stunted, doll face, asymptomatic hepatomegaly and motoric delayed. Early laboratory results showed increased of transaminases, and abdominal ultrasound showed merely liver enlargement. Therefore, the liver biopsy was done. The result showed that the portal tracts consisted of fibrocollagenous tissue with enlarged liver cell lobules. The cytoplasm was filled with glycogen deposits, the nuclei stayed in the middle, the cell membranes were thickened, and intracellular lipids were found in the vacuoles. Nucleus-contained glycogen was found in the perineural area. No sign of malignancy. Periodic acid Schiff (PAS) histochemical examination positively supports GSD. Further laboratory examinations revealed hypoglycemia, hyperlipidemia, and metabolic acidosis. She has been given uncooked-corn starch (UCCS) with diet management, bicarbonate tablets, and non-sugary multivitamins. Normal echocardiography and renal ultrasound were obtained on the basis of advanced monitoring.
CONCLUSION: It is challenging to diagnose glycogen storage disease based on anamnesis, physical examination, laboratory, and anatomical pathology examination. The management consist of dietary, pharmacology and monitoring of late severe manifestation. However, prognosis is difficult to determine since the type of GSD is unknown.