Chondrodysplasia complicated with infantile early-onset epilepsy and medial temporal lobe dysgenesis caused by the FGFR3 gene mutation: a case report and literature review
10.3760/cma.j.cn101070-20240912-00590
- VernacularTitle:FGFR3基因变异致软骨发育不良伴婴儿早发癫痫及颞叶内侧发育不良1例并文献复习
- Author:
Shanying WEI
1
;
Xinling TENG
1
;
Li WANG
1
;
Guangfei SUN
1
;
Ruihan LIU
1
;
Qinliang ZHENG
1
;
Yanchao TIAN
1
;
Qiubo LI
1
Author Information
1. 济宁医学院附属医院儿科，济宁 272000
- Publication Type:Journal Article
- Keywords:
FGFR3 gene;
Chondrodysplasia;
Infantile early-onset epilepsy;
Medial temporal lobe dysgenesis
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(7):537-541
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of an infant with chondrodysplasia accompanied by early-onset epilepsy and medial temporal lobe dysgenesis due to the FGFR3 gene mutation, who was treated in the Affiliated Hospital of Jining Medical University in March 2024 were retrospectively analyzed.The 9-day-old male infant presented with frequent apnea at 5 hours after birth and experienced first seizure at 24 hours after birth.Physical examination revealed short limbs.Magnetic resonance imaging (MRI) showed abnormal changes in bilateral temporal lobes, hippocampal structure and bilateral lateral ventricular temporal angles, so cerebral developmental abnormalities were considered in this child.Whole exome sequencing confirmed a heterozygous variation in the FGFR3 gene [c.1620C>A(p.Asn540Lys)].After receiving Phenobarbital monotherapy, the child still had frequent seizures, but the seizure was completely controlled after the additional use of Lvetiracetam.To August 2024, a total of 14 patients with achondroplasia, epilepsy, and medial temporal lobe dysplasia caused by FGFR3 gene mutations were identified.These patients typically experienced frequent seizures in early infancy, which could be accompanied by apnea and psychomotor retardation.MRI consistently showed abnormal development of bilateral temporal lobes and hippocampus.Seizures were hardly controlled by anti-seizure medications, and Phenobarbital was effective in some cases.Whole exome sequencing revealed gene variations of c.1620C>A or c. 1620C>G (p.Asn540Lys).Patients with achondroplasia caused by FGFR3 gene mutations may present with early-onset epilepsy and medial temporal lobe dysplasia.Early seizures are frequent and difficult to control, and Phenobarbital is effective in some cases.
