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

Na,  Jeong Min; Park,  Chan Hee; Yoo,  Eun Jung; Jung,  Kwon; Kim,  Kyoung Sim; Kim,  Yong Wook; Kim,  Eun Young

Case Report

Journal of the Korean Child Neurology Society 2008;16(1):86-91.
Published online May 30, 2008.

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

Jeong Min Na, Chan Hee Park, Eun Jung Yoo, Kwon Jung, Kyoung Sim Kim, Yong Wook Kim, Eun Young Kim

Department of Pediatrics, Kwangju Christian Hospital, Gwangju, Korea. eykim kook@yahoo.com

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.

Key Words: Miller-Dieker syndrome, Intractable epilespy, 17p13.3 microdeletion