[Intermittent convulsions for 1.5 years and psychomotor retardation in a girl].
Zhongguo Dang Dai Er Ke Za Zhi
; 19(1): 73-76, 2017 Jan.
Article
in Zh
| MEDLINE
| ID: mdl-28100327
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.
Full text:
1
Database:
MEDLINE
Main subject:
Psychomotor Disorders
/
Seizures
/
Epilepsy
Language:
Zh
Journal:
Zhongguo Dang Dai Er Ke Za Zhi
Year:
2017
Type:
Article
Affiliation country:
China