@article {Marini:2023:2637-8329:257,
title = "The Big Brain Theory: A Review of Overgrowth Syndromes for the Neuroradiologist",
journal = "Neurographics",
parent_itemid = "infobike://asnr/ng",
publishercode ="asnr",
year = "2023",
volume = "13",
number = "4",
publication date ="2023-10-01T00:00:00",
pages = "257-271",
itemtype = "ARTICLE",
issn = "2637-8329",
eissn = "2637-8329",
url = "https://asnr.publisher.ingentaconnect.com/content/asnr/ng/2023/00000013/00000004/art00003",
doi = "doi:10.3174/ng.2200021",
keyword = "PS = Proteus syndrome, MPPH = megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, MCAP = megalencephaly-capillary malformation syndrome, CLOVES = congenital lipomatous overgrowth, vascular malformations, epidermal nevis, spinal/skeletal anomalies/scoliosis, CS = Cowden syndrome, M-CMTC = macrocephaly-cutis marmorata telangiectatica congenita, TSC = tuberous sclerosis complex, FCD = focal cortical dysplasia, HMEG = hemimegalencephaly, PROS = PIK3CA-related overgrowth spectrum, PI3K = phosphatidylinositol-3-kinase, WHO = World Health Organization, GGS = Gorlin-Goltz syndrome, BRRS = Bannayan-Riley-Ruvalcaba syndrome, BWS = Beckwith-Wiedemann syndrome, PHTS = phosphatase and tensin homolog hamartoma tumor syndrome, SEGA = subependymal giant cell astrocytoma, LDD = Lhermitte-Duclos disease, NF1 = neurofibromatosis type I, mTOR = mammalian target of rapamycin, KTS = Klippel-Trenaunay syndrome",
author = "Marini, T.J. and Mistry, D. and Jetty, S. and Chaturvedi, A. and Lin, E. and Ellika, S.",
abstract = "Overgrowth syndromes are a generally rare and diverse spectrum of disease states related to genetic mutations regulating cell growth and metabolism, resulting in pathologic overgrowth of anatomic structures. Due to their rarity, radiologists may be generally unfamiliar with these diseases.
Furthermore, the complexity of these conditions may pose a challenge to clinicians seeking to understand these syndromes. In this review, we provide an overview of the common imaging findings of overgrowth syndromes for the neuroradiologist with an additional emphasis on predisposition to
malignancy. Understanding the most common neuroimaging findings and considerations associated with overgrowth syndromes helps to provide the highest quality of care to these patients by equipping the radiologist with the skills to actively search for characteristic disease manifestations and
complications.Learning Objective: To identify the neuroimaging findings in overgrowth syndromes",
}