[Clinical analysis of spinal muscular atrophy complicated with hypoglycemia in 5 children]

Objective: To summarize the clinical characteristics and management of hypoglycemia in children with spinal muscular atrophy (SMA). Methods: Case series study was conducted. Clinical data from 5 children with SMA and hypoglycemia who were treated at the Peking University First Hospital from January 2020 to December 2025 were collected and analyzed. The precipitating factors, clinical manifestations, laboratory findings, treatment, and prognosis of hypoglycemia were summarized. Results: Of the 5 children, 1 was male and 4 were female, and all had 5q SMA type 2. Hypoglycemia occurred 0.7-2.5 years after the initiation of disease-modifying therapy. The age at the first hypoglycemia episode occurred 5-13 years. Hypoglycemia occurred after an acute infection in 3 children and following fasting for routine follow-up examinations in the other 2 children. Three children had hypoglycemia-related symptoms, including vomiting, abdominal pain, hand tremor, sweating, and fatigue, whereas the other 2 children were asymptomatic. Urinary ketones were positive in all 5 children, 4 children had concurrent metabolic acidosis, and 4 children had serum creatinine levels below the age-specific reference range. Hypoglycemia was rapidly corrected in all 5 children after intravenous glucose administration or oral intake of glucose-containing beverage. Conclusions: Children with SMA may develop hypoglycemia, particularly during infection or fasting. Because its clinical manifestations of hypoglycemia may be nonspecific, clinicians should maintain a high level of vigilance, avoid prolonged fasting, and ensure timely energy supplementation. Hypoglycemia should remain a clinical consideration in patients receiving disease-modifying therapy.