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

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. YntemaCarsten Bonnemann, Amy T. Waldman, Marjo S. Van Der Knaap

Research output: Contribution to journalArticle

38 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)627-633
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number3
DOIs
StatePublished - Mar 1 2014

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Megalencephaly
Multiple Hamartoma Syndrome
Magnetic Resonance Imaging
Mutation
Brain
Phenotype
Tertiary Care Centers
Neuroimaging
White Matter

Keywords

  • Autism spectrum disorder
  • Genetics
  • Hamartoma
  • Leukoencephalopathy
  • Macrocephaly
  • Magnetic resonance imaging
  • Perivascular
  • PTEN

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Vanderver, A., Tonduti, D., Kahn, I., Schmidt, J., Medne, L., Vento, J., ... Van Der Knaap, M. S. (2014). Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. American Journal of Medical Genetics, Part A, 164(3), 627-633. https://doi.org/10.1002/ajmg.a.36309

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. / Vanderver, Adeline; Tonduti, Davide; Kahn, Ilana; Schmidt, Johanna; Medne, Livija; Vento, Jodie; Chapman, Kimberly A.; Lanpher, Brendan; Pearl, Phillip; Gropman, Andrea; Lourenco, Charles; Bamforth, John Steven; Sharpe, Cynthia; Pineda, Mercédes; Schallner, Jens; Bodamer, Olaf; Orcesi, Simona; Oberstein, Saskia A J Lesnik; Sistermans, Erik A.; Yntema, Helger G.; Bonnemann, Carsten; Waldman, Amy T.; Van Der Knaap, Marjo S.

In: American Journal of Medical Genetics, Part A, Vol. 164, No. 3, 01.03.2014, p. 627-633.

Research output: Contribution to journalArticle

Vanderver, A, Tonduti, D, Kahn, I, Schmidt, J, Medne, L, Vento, J, Chapman, KA, Lanpher, B, Pearl, P, Gropman, A, Lourenco, C, Bamforth, JS, Sharpe, C, Pineda, M, Schallner, J, Bodamer, O, Orcesi, S, Oberstein, SAJL, Sistermans, EA, Yntema, HG, Bonnemann, C, Waldman, AT & Van Der Knaap, MS 2014, 'Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations', American Journal of Medical Genetics, Part A, vol. 164, no. 3, pp. 627-633. https://doi.org/10.1002/ajmg.a.36309
Vanderver, Adeline ; Tonduti, Davide ; Kahn, Ilana ; Schmidt, Johanna ; Medne, Livija ; Vento, Jodie ; Chapman, Kimberly A. ; Lanpher, Brendan ; Pearl, Phillip ; Gropman, Andrea ; Lourenco, Charles ; Bamforth, John Steven ; Sharpe, Cynthia ; Pineda, Mercédes ; Schallner, Jens ; Bodamer, Olaf ; Orcesi, Simona ; Oberstein, Saskia A J Lesnik ; Sistermans, Erik A. ; Yntema, Helger G. ; Bonnemann, Carsten ; Waldman, Amy T. ; Van Der Knaap, Marjo S. / Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. In: American Journal of Medical Genetics, Part A. 2014 ; Vol. 164, No. 3. pp. 627-633.
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