A Case of Miller-Dieker Syndrome with Infantile Spasm and Lennox-Gastaut Syndrome.
- Author:
Jeong Min NA
1
;
Chan Hee PARK
;
Eun Jung YOO
;
Kwon JUNG
;
Kyoung Sim KIM
;
Yong Wook KIM
;
Eun Young KIM
Author Information
1. Department of Pediatrics, Kwangju Christian Hospital, Gwangju, Korea. eykim kook@yahoo.com
- Publication Type:Case Report
- Keywords:
Miller-Dieker syndrome;
Intractable epilespy;
17p13.3 microdeletion
- MeSH:
Child;
Classical Lissencephalies and Subcortical Band Heterotopias;
Craniofacial Abnormalities;
Epilepsy;
Female;
Fluorescence;
Gene Deletion;
Humans;
In Situ Hybridization;
Infant;
Infant, Newborn;
Intellectual Disability;
Lissencephaly;
Pneumonia;
Seizures;
Spasms, Infantile
- From:
Journal of the Korean Child Neurology Society
2008;16(1):86-91
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Miller-Dieker syndrome is a contiguous gene deletion syndrome involving chromosome 17p13.3, which is characterized by type 1(classical) lissencephaly and typical craniofacial abnormalities. Children with Miller-Dieker syndrome have profound psychomotor retardation, seizures that often are intractable, chronic feeding problems that lead to recurrent pneumonia, and shortened lifespan. We have experienced a Miller-Dieker syndrome female who has lived to 8years, showing severe mental and motor retardation and intractable epilepsy. She was diagnosed as Miller-Dieker syndrome in the neonatal period, showing typical facial features, type 1 lissencephaly, and chromosome 17p13.3 microdeletion in fluorescence in situ hybridization. Infantile spasm occurred at 4 months of age and progressed to Lennox-Gastaut syndrome at 3 years and 6 months, both of which were not controlled by antiepileptic drugs.
