Isolated short stature as the only presenting symptom of glycogen storage disease type 0a in a Chinese child: A case report

Abstract

Rationale: Glycogen storage disease type 0a (GSD0a) is a rare autosomal recessive disorder caused by glycogen synthase deficiency. Short stature is a characteristic feature in 29% of GSD0a patients, but isolated short stature as the only presenting symptom is exceedingly rare, with only 2 cases reported worldwide. Patient concerns: A 4-year-old girl presented with persistent growth retardation despite previous treatment for renal tubular acidosis. Diagnoses: Based on clinical presentation and whole exome sequencing results, the patient was diagnosed with GSD0a. Interventions: Uncooked cornstarch therapy was initiated at 2 g/kg every 6 hours. Outcomes: After 3 years of treatment, the patient’s height SDS improved from −2.24 to −1.06, with enhanced glycemic control and no complications. Lessons: This case emphasizes considering GSD0a in unexplained short stature and the value of continuous glucose monitoring. Early diagnosis and treatment can optimize growth in GSD0a patients.