Korean J Perinatol.  2005 Jun;16(2):181-186.

A Case Report of Miller-Dieker Syndrome

• Cho GJ
• Oh MJ
• Kwon JA
• Kim KA
• Lee JK
• Hur JY
• Saw HS
• Park YG

Abstract

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly (lissencephaly type 1) and distinct facial features. Children with MDS present with severe developmental delay, epilepsy and feeding problems. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachy- gyria. Prenatal diagnosis is available and consists of fetal chromosomal analysis by karyotyping or fluorescence in situ hybridization (FISH), on chorion villus sampling or amniocentesis. Sonographic diagnosis in general cannot be accomplished earlier than late second trimester, when the characteristic cerebral anomalies can be noted. The progressive microcephaly and failure of development of both sulci and gyri are suggestive of lissencephaly. We report the case of a pregnant woman of 24 weeks gestation who presented with ventriculomegaly on antenatal sonography and hydrocephalus, and corpus callosum agenesis on fetal MRI, which was diagnosed as MDS by karyotyping and FISH on amniocentesis.

Keyword

Miller-Dieker Syndrome; Lissencephaly

MeSH Terms

Agenesis of Corpus Callosum
Amniocentesis
Child
Chorion
Classical Lissencephalies and Subcortical Band Heterotopias*
Diagnosis
Epilepsy
Female
Fluorescence
Gene Deletion
Humans
Hydrocephalus
In Situ Hybridization
Karyotyping
Lissencephaly
Magnetic Resonance Imaging
Microcephaly
Pregnancy
Pregnancy Trimester, Second
Pregnant Women
Prenatal Diagnosis
Ultrasonography