Medicine (Baltimore). 2024 Aug 9;103(32):e39091. doi: 10.1097/MD.0000000000039091.
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.
PMID:39121286 | DOI:10.1097/MD.0000000000039091
