Premium
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome
Author(s) -
Balci Tugce B.,
Davila Jorge,
Lewis Denice,
Boafo Addo,
Sell Erick,
Richer Julie,
Nikkel Sarah M.,
Armour Christine M.,
Tomiak Eva,
Lines Matthew A.,
Sawyer Sarah L.
Publication year - 2018
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.32610
Subject(s) - macrocephaly , pten , white matter , context (archaeology) , medicine , leukoencephalopathy , autism spectrum disorder , autism , pathology , hyperintensity , magnetic resonance imaging , disease , psychiatry , biology , genetics , radiology , pi3k/akt/mtor pathway , apoptosis , paleontology
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. 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.