One case of Turnpenny-Fry syndrome presenting as infantile epileptic spasm syndrome

VernacularTitle:表现为婴儿癫痫性痉挛综合征的Turnpenny-Fry综合征1例
Author: Ying SUN ¹ ; Lifen DUAN ; Runxiu YIN ; Yi ZHANG ; Lei YE ; Wei YU
Author Information

1. 昆明市儿童医院癫痫中心，昆明　650000
Keywords: Infantile epileptic spasm syndrome; Turnpenny-Fry syndrome; PCGF2 gene
From: Chinese Journal of Applied Clinical Pediatrics 2024;39(8):609-612
CountryChina
Language:Chinese
Abstract: 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.