Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration.

ABSTRACT:

Objective

We aimed to delineate the distribution of periventricular nodular heterotopia (PNH) in patients with 22q11.2 microdeletion syndrome (22q11.2DS) and place this in the context of other genetic forms of PNH.

Methods

We retrospectively analyzed brain imaging and postmortem data available for adult patients with 22q11.2DS. We included only those with good quality MRI data (n = 29) in addition to two patients with PNH identified through postmortem studies. We also reviewed the pattern of PNH in all genetic conditions reported with this phenotype.

Results

Of the total seven patients (M = 4, F = 3; age: 19-61 years) identified to have PNH, six had a history of seizures, six had schizophrenia, six had variable levels of intellectual disability, and two had obs

SUBMITTER: Rezazadeh A 

PROVIDER: S-EPMC6243376 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature