title: 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.
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington, District of Columbia.
authors.forename: Adeline
authors.initials: A
authors.lastname: Vanderver
authors.forename: Davide
authors.initials: D
authors.lastname: Tonduti
authors.forename: Ilana
authors.initials: I
authors.lastname: Kahn
authors.forename: Johanna
authors.initials: J
authors.lastname: Schmidt
authors.forename: Livija
authors.initials: L
authors.lastname: Medne
authors.forename: Jodie
authors.initials: J
authors.lastname: Vento
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Chapman
authors.forename: Brendan
authors.initials: B
authors.lastname: Lanpher
authors.forename: Phillip
authors.initials: P
authors.lastname: Pearl
authors.forename: Andrea
authors.initials: A
authors.lastname: Gropman
authors.forename: Charles
authors.initials: C
authors.lastname: Lourenco
authors.forename: John-Steven
authors.initials: JS
authors.lastname: Bamforth
authors.forename: Cynthia
authors.initials: C
authors.lastname: Sharpe
authors.forename: Mercédes
authors.initials: M
authors.lastname: Pineda
authors.forename: Jens
authors.initials: J
authors.lastname: Schallner
authors.forename: Olaf
authors.initials: O
authors.lastname: Bodamer
authors.forename: Simona
authors.initials: S
authors.lastname: Orcesi
authors.forename: Saskia A J Lesnik
authors.initials: SA
authors.lastname: Oberstein
authors.forename: Erik A
authors.initials: EA
authors.lastname: Sistermans
authors.forename: Helger G
authors.initials: HG
authors.lastname: Yntema
authors.forename: Carsten
authors.initials: C
authors.lastname: Bonnemann
authors.forename: Amy T
authors.initials: AT
authors.lastname: Waldman
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
mesh_terms: D001921:Brain / Q000473:pathology; D002508:Cephalometry; D002675:Child, Preschool; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D058627:Megalencephaly / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics*
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human
keywords: PTEN; autism spectrum disorder; genetics; hamartoma; leukoencephalopathy; macrocephaly; magnetic resonance imaging; perivascular