Intermittent convulsions for 1.5 years and psychomotor retardation in a girl.
- Author:
Li YANG
1
;
Yu-Fen LI
;
Li-Yun XU
;
Na XU
;
Yu-Zeng HAN
;
Jun-Lin WANG
;
Ji-Guo SONG
;
Ying HUA
;
Li-Ping ZHU
Author Information
1. Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276001, China. taishanjiaoxia39@163.com.
- Publication Type:Case Reports
- MeSH:
Aldehyde Dehydrogenase;
genetics;
Child, Preschool;
Epilepsy;
complications;
Female;
Humans;
Mutation;
Psychomotor Disorders;
etiology;
Seizures;
etiology
- From:
Chinese Journal of Contemporary Pediatrics
2017;19(1):73-76
- CountryChina
- Language:Chinese
-
Abstract:
The study reports a girl with pyridoxine-dependent epilepsy. The girl was admitted at the age of 2 years because of intermittent convulsions for 1.5 years and psychomotor retardation. She had a history of "hypoxia" in the neonatal period. At the age of 5 months recurrent epileptic seizures occurred. The child was resistant to antiepileptic drugs, and had many more seizures when she got cold or fever. She also had a lot of convulsive status epilepticus. No discharges were found during several video-EEG monitorings. Cerebral MRI examinations showed normal results. So Dravet syndrome was clinically suspected. ALDH7N1 gene mutation analysis revealed two heterozygote mutations, and pyridoxine-dependent epilepsy was thus confirmed. Seizures were generally controlled after pyridoxine supplementation.
