A Case of Miller-Dieker Syndrome with Infantile Spasm and Lennox-Gastaut Syndrome / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 86-91, 2008.
Article
in Korean
| WPRIM
| ID: wpr-164766
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pneumonia
/
Seizures
/
Spasms, Infantile
/
In Situ Hybridization
/
Gene Deletion
/
Craniofacial Abnormalities
/
Epilepsy
/
Lissencephaly
/
Classical Lissencephalies and Subcortical Band Heterotopias
/
Fluorescence
Limits:
Child
/
Female
/
Humans
/
Infant
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Child Neurology Society
Year:
2008
Type:
Article
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