Hippocampal Abnormalities in Magnetic Resonance Imaging …

August 23, 2014
Hippocampal Abnormalities in Magnetic Resonance Imaging (MRI) of 15q Duplication Syndromes

Susana Boronat 1William A Mehan 2Elias A Shaaya 3Ronald L Thibert 3Paul Caruso 2

Abstract

Patients with 15q duplication syndromes, including isodicentric chromosome 15 and interstitial duplications, usually present with autism spectrum disorder, intellectual disability, and frequently epilepsy. Neuroimaging studies in these patients are typically reported as normal, but nonspecific findings such as thinning of the corpus callosum and increased pericerebral spaces have been reported. A review of brain magnetic resonance imaging (MRI) studies of 11 individuals seen at the Massachusetts G