A retrospective analysis was made on the clinical data of a child with Turnpenny-Fry syndrome who was treated in the Epilepsy Center of Kunming Children′s Hospital in January 2023 for developmental retardation and epileptic spasm.The child, a 1-year-and-4-month-old boy, had developmental retardation since birth and developed epileptic spasm at the age of 5 months.Physical examination and auxiliary examination showed distinct facial features, heart, bone and other developmental malformations.Electroencephalogram indicated hypsarrhythmia and epileptic spasm.The genetic test suggested the presence of c. 194C>T (p.Pro65Leu), a new heterozygous mutation in PCGF2 gene.The seizures were completely controlled with anti-seizure drugs.This child is the only case reported with infantile epileptic spasm as the main manifestation so far, expanding the understanding of the phenotype of the disease.

【Objective】 To investigate the clinical efficacy and safety of low-dose rituximab combined with dexamethasone in the treatment of refractory ITP (RITP) in children. 【Methods】 A total of 31 RITP children, admitted to the Hematology Department of Kunming Children′s Hospital from January 2016 to December 2019 and agreed to receive low-dose rituximab (100 mg/ time, once a week, for 4 successive weeks) combined with dexamethasone (0.6 mg/kg, once a day, for 4 successive days) were enrolled and studied. Blood routine was monitored every other day during treatment, and adverse drug reactions were recorded. The influence of gender, disease course and age on prognosis was compared by χ² test. 【Results】 1) Among the 31 cases, 11 (35.5%) had platelets >100×10⁹/L after 4 weeks and had no recurrence in 6 months; 9 (29%) had platelets >30×10⁹/L but <100×10⁹/L and had no recurrence in 6 months; 11 (35.5%) showed no recovery of platelets, which were consistently lower than 30×10⁹/L. 2) Rituximab was used in 4 cases (12.9%), 1 case (3.2%) presented with severe drug-induced rashes; Headache, vomiting and elevated blood pressure occurred in 2 cases (6.4%). 1 case (3.2%) presented with laryngeal edema. 3) There was no difference in the total effective rate among different gender, age and disease course (P >0.05). 【Conclusion】 The total effective rate of low-dose rituximab combined with dexamethasone for children with refractory ITP in 6 months is 64.5%, and the adverse reactions are tolerable, so it can be used as a treatment option for children with refractory ITP.