Intermittent convulsions for 1.5 years and psychomotor retardation in a girl / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 73-76, 2017.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-351398
Responsible library:
WPRO
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:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Psychomotor Disorders
/
Seizures
/
Aldehyde Dehydrogenase
/
Epilepsy
/
Genetics
/
Mutation
Limits:
Child, preschool
/
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2017
Document type:
Article