J Korean Child Neurol Soc.  2008 May;16(1):86-91.

A Case of Miller-Dieker Syndrome with Infantile Spasm and Lennox-Gastaut Syndrome

• Na JM
• Park CH
• Yoo EJ
• Jung K
• Kim KS
• Kim YW
• Kim EY

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.

Keyword

Miller-Dieker syndrome; Intractable epilespy; 17p13.3 microdeletion

MeSH Terms

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
Intellectual Disability
Spasms, Infantile