Back to Search
Start Over
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTENhamartoma tumor syndrome
- Source :
- American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics; January 2018, Vol. 177 Issue: 1 p101-109, 9p
- Publication Year :
- 2018
-
Abstract
- White matter lesions have been described in patients with PTENhamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features associated with PTENmutations, such as autism spectrum disorder (ASD) or developmental delay, has not been well established. We report nine patients with PTENmutations 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 PTENārelated 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.
Details
- Language :
- English
- ISSN :
- 15524841 and 1552485X
- Volume :
- 177
- Issue :
- 1
- Database :
- Supplemental Index
- Journal :
- American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics
- Publication Type :
- Periodical
- Accession number :
- ejs44232665
- Full Text :
- https://doi.org/10.1002/ajmg.b.32610