He Hai-Lan, Lin Xue-Qin, Wang Xiao-Le, Peng Pan, Xiao Hui, Yin Fei, Peng Jing
Department of Neurology, Children's Medical Center, Xiangya Hospital, Central South University, Changsha 410008, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2024 Aug 15;26(8):861-864. doi: 10.7499/j.issn.1008-8830.2404013.
A boy, aged 7 months, presented with severe global developmental delay (GDD), refractory epilepsy, hypotonia, nystagmus, ocular hypertelorism, a broad nasal bridge, everted upper lip, a high palatal arch, and cryptorchidism. Genetic testing revealed a heterozygous missense mutation of c.364G>A(p.E122K) in the gene, and finally the boy was diagnosed with autosomal dominant developmental and epileptic encephalopathy 33 caused by the gene mutation. This case report suggests that for children with unexplained infancy-onset severe to profound GDD/intellectual disability and refractory epilepsy, genetic testing for gene mutations should be considered. This is particularly important for those exhibiting hypotonia, nonverbal communication, and craniofacial deformities, to facilitate a confirmed diagnosis.
一名7个月大的男孩出现严重的全面发育迟缓（GDD）、难治性癫痫、肌张力减退、眼球震颤、眼距过宽、鼻梁宽、上唇外翻、高腭弓和隐睾症。基因检测发现该基因存在c.364G>A（p.E122K）的杂合错义突变，最终该男孩被诊断为由该基因突变引起的常染色体显性遗传性发育性和癫痫性脑病33型。本病例报告表明，对于原因不明的婴儿期起病的严重至极重度GDD/智力残疾和难治性癫痫患儿，应考虑进行该基因突变的基因检测。这对于那些表现出肌张力减退、非语言交流和颅面畸形的患儿尤为重要，有助于确诊。
