Neuroimaging features of genetic syndromes associated with CNS overgrowth

Anthony R Zamary; Mark D Mamlouk

doi:10.1007/s00247-022-05408-5

Neuroimaging features of genetic syndromes associated with CNS overgrowth

Pediatr Radiol. 2022 Dec;52(13):2452-2466. doi: 10.1007/s00247-022-05408-5. Epub 2022 Oct 8.

Authors

Anthony R Zamary¹, Mark D Mamlouk^{2

3}

Affiliations

¹ Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA.
² Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA. mark.d.mamlouk@kp.org.
³ Department of Radiology, The Permanente Medical Group, Kaiser Permanente Medical Center Santa Clara, 700 Lawrence Expy., Santa Clara, CA, 95051, USA. mark.d.mamlouk@kp.org.

Abstract

Overgrowth syndromes can manifest with enlargement of the brain and other body parts and are associated with malignancy. Much of the current literature focuses on the imaging findings of the somatic overgrowth, while there is relatively little describing the overgrowth of the central nervous system. In this pictorial essay, we discuss common syndromes with central nervous system overgrowth, highlight key imaging features, and review the underlying genetics, including the PI3K-AKT-mTOR pathway as well as other syndromes from various genes.

Keywords: Central nervous system; Children; Hemimegalencephaly; Magnetic resonance imaging; Overgrowth syndromes; PIK3CA; Vascular malformations.

Publication types

Review

MeSH terms

Central Nervous System* / pathology
Humans
Mutation
Neuroimaging*
Phosphatidylinositol 3-Kinases / genetics
Phosphatidylinositol 3-Kinases / metabolism
Syndrome

Substances

Phosphatidylinositol 3-Kinases