Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.

ABSTRACT:

Objective

To describe a homogeneous subtype of periventricular nodular heterotopia (PNH) as part of a newly defined malformation complex.

Methods

Observational study including review of brain MRI and clinical findings of a cohort of 50 patients with PNH in the temporo-occipital horns and trigones, mutation analysis of the FLNA gene, and anatomopathologic study of a fetal brain.

Results

There were 28 females and 22 males. All were sporadic with the exception of an affected mother and son. Epilepsy occurred in 62%, cerebellar signs in 56%, cognitive impairment in 56%, and autism in 12%. Seventy percent were referred within the 3rd year of life. Imaging revealed a normal cerebral cortex in 76% and abnormal cortical folding in 24%. In all patients the hippocampi were unde

SUBMITTER: Pisano T 

PROVIDER: S-EPMC3440449 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature