We describe a 26-year-old girl with intractable focal epilepsy, spastic tetraparesis, severe mental retardation, agenesis of the corpus callosum and two subcortical bands of heterotopic neurons (triple cortex?). The array-CGH analysis showed a deleted chromosomal segment on Xq22.3 that contains the PAK3 gene, which is involved in synapse formation and related to cognitive deficit, 3 and part of DCX gene that causes X-linked lissencephaly or subcortical band heterotopia1,2. Our study appears to be the first work in literature that describes this type of brain malformation. The extreme complexity of phenotype (clinical pictures and neuroimaging) in our patient could be explained by the synergic effect and combined loss of two genes.
|Translated title of the contribution||"Triple cortex" and corpus callosum agenesis associated with a deletion on chromosome Xq22.3|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - May 2012|
ASJC Scopus subject areas
- Clinical Neurology