表现为婴儿癫痫性痉挛综合征的Turnpenny-Fry综合征1例  

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

作　　者：孙莹[1] 段丽芬[1] 尹润秀 张艺 叶磊[1] 余伟[1] Sun Ying;Duan Lifen;Yin Runxiu;Zhang Yi;Ye Lei;Yu Wei(Department of Epilepsy Center,Kunming Children′s Hospital,Kunming 650000,China)

机构地区：[1]昆明市儿童医院癫痫中心,昆明650000

出　　处：《中华实用儿科临床杂志》2024年第8期609-612,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：云南省教育厅科研基金(2023J0299);昆明市卫健委卫生科研课题(2022-06-01-011)。

摘　　要：对2023年1月昆明市儿童医院癫痫中心收治的1例以发育落后、癫痫性痉挛发作为主要表现的Turnpenny-Fry综合征患儿的临床资料进行回顾性分析。患儿,男,1岁4个月,自幼发育落后,5月龄时出现癫痫性痉挛发作,查体及辅助检查可见特殊面容,心脏、骨骼等发育畸形,脑电图提示高度失律并监测到癫痫性痉挛发作,基因检查提示PCGF2基因存在c.194C>T(p.Pro65Leu)新发杂合变异。患儿经抗癫痫发作药单药治疗后发作完全控制。该病罕见,本例是目前已报道唯一1例以婴儿癫痫性痉挛为主要表现的病例,拓展了对该病表型的认识。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.

关 键 词：婴儿癫痫性痉挛综合征 Turnpenny-Fry综合征 PCGF2基因 

分 类 号：R742.1[医药卫生—神经病学与精神病学]