Wolf-Hirschhorn (4p-) Syndrome Presenting with Status Epilepticus
- Author:
Ji Young JUN
1
;
Hee Joon YU
;
Byung Chan LIM
;
Jeehun LEE
;
Jong Hee CHAE
;
Munhyang LEE
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sunkyunkwan University School of Medicine, Seoul, Korea. jhlee0101@skku.edu
- Publication Type:Case Report
- Keywords:
Wolf-Hirschhorn syndrome;
Status epilepticus;
Chromosome 4p deletion
- MeSH:
Arm;
Chromosome Deletion;
Chromosomes, Human, Pair 4;
Humans;
Intellectual Disability;
Seizures;
Status Epilepticus;
Wolf-Hirschhorn Syndrome
- From:Journal of Korean Epilepsy Society
2013;17(1):17-21
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Wolf-Hirschhorn syndrome is a well-recognized malformation syndrome with multiple congenital anomalies, resulting from partial deletion of the short arm of chromosome 4 (4p-). All affected individuals have intrauterine and postnatal growth retardation with marked feeding difficulties, developmental delay, and intellectual disability. Additionally, most of patients have seizures from early infancy. Although seizures are common with this syndrome, presenting with status epilepticus (SE) is rare. We report two cases of Wolf-Hirschhorn syndrome presenting with SE.
