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Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

ABSTRACT: 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. The phenotype of PHTS may include MRI abnormalities such as multifocal periventricular white matter abnormalities and enlarged perivascular spaces. These neuroimaging findings, in association with macrocephaly and developmental delay, should prompt consideration of PTEN as a diagnostic possibility.

SUBMITTER: Vanderver A

PROVIDER: S-EPMC5234041 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature

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Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

Vanderver Adeline A Tonduti Davide D Kahn Ilana I Schmidt Johanna J Medne Livija L Vento Jodie J Chapman Kimberly A KA Lanpher Brendan B Pearl Phillip P Gropman Andrea A Lourenco Charles C Bamforth John-Steven JS Sharpe Cynthia C Pineda Mercédes M Schallner Jens J Bodamer Olaf O Orcesi Simona S Oberstein Saskia A J Lesnik SA Sistermans Erik A EA Yntema Helger G HG Bonnemann Carsten C Waldman Amy T AT van der Knaap Marjo S MS

American journal of medical genetics. Part A 20131220 3

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 ave ...[more]

PMID: 24375884

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Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

Publications

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

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