Adeline Vanderver, Davide Tonduti, Ilana Kahn, Johanna Schmidt, Livija Medne, Jodie Vento, Kimberly A Chapman, Brendan Lanpher, Phillip Pearl, Andrea Gropman, Charles Lourenco, John-Steven Bamforth, Cynthia Sharpe, Mercédes Pineda, Jens Schallner, Olaf Bodamer, Simona Orcesi, Saskia A J Lesnik Oberstein, Erik A Sistermans, Helger G Yntema, Carsten Bonnemann, Amy T Waldman, Marjo S van der Knaap
We describe an MRI phenotype seen in a series of patients with mutations in PTEN who have clinical features consistent with PTEN hamartoma tumor syndrome (PHTS). Retrospective review of clinical data and MRI was performed in 23 subjects evaluated in four different tertiary care centers with clinical programs in inherited disorders of the white matter. Patients were referred due to abnormal MRI features and abnormal PTEN sequencing was identified. All subjects had significant macrocephaly (on average >4 SD above the mean), developmental delay with or without autism spectrum disorder and uniform MRI features of enlarged perivascular spaces and multifocal periventricular white matter abnormalities...
March 2014: American Journal of Medical Genetics. Part A