Abstract
Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease
caused by deficient glycogen branching enzyme (GBE). We report a 15-month-old
female patient with GSD-IV who exhibited an abdominal distension and failure to
thrive for 9 months. The patient showed hepatosplenomegaly with massive ascites.
The laboratory findings showed abnormal liver functions including prolongation
of prothrombin time and partial thromboplastin time. The light microscopic and
electron microscopic findings of the liver biopsy specimen were consistent with
GSD-IV. Measurement of glycogen quantity in the red blood cells showed increased
storage of glycogen in the patient and interestingly, in her mother. The GBE
activity of the patient's red blood cells was undetectable. The patient's
ascites, general condition, and laboratory findings have been improved with
supportive treatment with diuretics and a low dose of prednisolone.