Dysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway

Shai Shrot, Misun Hwang, Carl Stafstrom, Thierry A.G.M. Huisman, Bruno Soares

Research output: Contribution to journalArticle

Abstract

The current classification of malformations of cortical development is based on the type of disrupted embryological process (cell proliferation, migration, or cortical organization/post-migrational development) and the resulting morphological anomalous pattern of findings. An ideal classification would include knowledge of biological pathways. It has recently been demonstrated that alterations affecting the mechanistic target of rapamycin (mTOR) signaling pathway result in diverse abnormalities such as dysplastic megalencephaly, hemimegalencephaly, ganglioglioma, dysplastic cerebellar gangliocytoma, focal cortical dysplasia type IIb, and brain lesions associated with tuberous sclerosis. We review the neuroimaging findings in brain abnormalities related to alterations in the mTOR pathway, following the emerging trend from morphology towards genetics in the classification of malformations of cortical development. This approach improves the understanding of anomalous brain development and allows precise diagnosis and potentially targeted therapies that may regulate mTOR pathway function.

Original languageEnglish (US)
Pages (from-to)1-14
Number of pages14
JournalNeuroradiology
DOIs
StateAccepted/In press - Dec 26 2017

Keywords

  • Cortical dysplasia
  • Epilepsy
  • Magnetic resonance imaging
  • Malformations of cortical development
  • mTOR pathway

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology
  • Cardiology and Cardiovascular Medicine

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