Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome

We report nine patients with PTEN mutations and white matter changes on brain magnetic resonance imaging (MRI), eight of whom were referred for reasons other than developmental delay or ASD. Their clinical presentations ranged from asymptomatic macrocephaly with normal development/intellect, to obsessive compulsive disorder, and debilitating neurological disease. To our knowledge, this report constitutes the first detailed description of PTEN‐related white matter changes in adult patients and in children with normal development and intelligence. We present a detailed assessment of the neuropsychological phenotype of our patients and discuss the relationship between the wide array of neuropsychiatric features and observed white matter findings in the context of these individuals.

Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 20, 2017 Category: Genetics & Stem Cells Authors: Tugce B. Balci, Jorge Davila, Denice Lewis, Addo Boafo, Erick Sell, Julie Richer, Sarah M. Nikkel, Christine M. Armour, Eva Tomiak, Matthew A. Lines, Sarah L. Sawyer Tags: RESEARCH ARTICLE Source Type: research