ESPE Abstracts

Objective: This study aims to compare the clinical and electrophysiological characteristics of two cases of type I sialidosis in Chinese children with previously reported cases, in order to elaborate the clinical and genetic features of type I sialidosis.Methods: Clinical investigations and genetic analyses were conducted on an 11-year-old girl primarily presenting with short stature, admitted in June 2020, and a 10 year...

Objective Insulin autoimmune syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycemia in children. Methods We retrospectively analyzed the youngest diagnosed case of IAS in China, which presented as frequent spontaneous hypoglycemia. Results A 4-year-old boy with a height of 102.5 cm (-0.16 SD), weight of 18 kg (0.84 SD), and BMI of 17.13 kg/m2 (1.35 SD) was examined. He had no distinctive facial features or acanthosis nigricans. After a fasting test for 14 hours, his v...