Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report

Glycogen storage disease (GSD) is a glycogen metabolism disorder caused by congenital enzyme defects, with type I being the most common. Owing to the rarity of glycogen storage disease type Ia (GSD Ia) and the involvement of diverse systems, patients are prone to delayed diagnosis and inappropriate treatment. Additional studies are required to standardize the diagnosis and treatment of GSD Ia. PATIENT CONCERNS: We report 2 cases of GSD Ia that occurred in 2 sisters. The elder sister also had recurrent pancreatitis, and the pancreatic pseudocyst rupture resulted in sepsis, portal hypertension, and splenic infarction. The younger sister had the same mutation site, but the clinical phenotypes were not identical. DIAGNOSIS: Abdominal computed tomography and laboratory examinations revealed regional portal hypertension, splenic infarction, and sepsis in the elder sister; diagnosis was confirmed by whole exome sequencing. Sanger sequencing was used to confirm that the younger sister and their parents also had the mutation site. INTERVENTIONS: The elder sister was treated with corn starch therapy, and medication for antiinfection and reducing hypertriglyceridemia, inhibiting trypsin activity, relieving hyperuricemia. The younger sister was treated with raw cornstarch-based nutritional therapy and sodium bicarbonate. OUTCOMES: The elder sister’s infection was controlled and she gradually returned to a normal diet. After discharge, hyperlipidemia was not controlled satisfactorily, but hypoglycemia, hyperuricemia, hyperlactatemia, and anemia improved. LESSONS: GSD should be considered in childhood patients with hypoglycemia, hypertriglyceridemia, hyperuricemia, and hyperlactatemia. Gene sequencing can enable quick identification of GSD subtypes. This case report highlights the common clinical manifestations can be linked to rare diseases. Clinical work requires careful observation of the correlations between patient history, physical examinations, and laboratory examinations.