Miller-Dieker lissencephaly syndrome (MDLS)
Incidence
Autosomal dominant
Clinical Characteristics
It is a developmental defect of the brain caused by incomplete neuronal migration and characterized by smoothness of the surface of the brain (lissencephaly) occurring in association with absence of the sulci and gyri (agyria) and thickening of the cerebral cortex with four rather than six layers (pachygyria), microcephaly, characteristic facial appearance, retarded growth and mental development, neurological complications, and multiple abnormalities of the brain, kidneys, heart, gastrointestinal tract, and other organs. Lissencephaly is now recognized as a component of several other syndromes. Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (aka lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. Children with MDS present with severe developmental delay usually have epilepsy and feeding problems are common. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachygyria. Visible and submicroscopic deletions of 17p13.3 including the LIS1 gene are found in almost 100% of patients.
Precipitants
None.
Provocation Tests
None
Diagnostic Procedures
Cytogenetic deletion of chromosome 17p13.3 . Fluorescence in situ hybridization specific probe for MDS critical region.