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
White matter lesions have been described in patients with PTEN hamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features associated with PTEN mutations, such as autism spectrum disorder (ASD) or developmental delay, has not been well established. 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...
January 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics