The Big Brain Theory: A Review of Overgrowth Syndromes for the Neuroradiologist
Learning Objective: To identify the neuroimaging findings in overgrowth syndromes
Keywords: BRRS = Bannayan-Riley-Ruvalcaba syndrome; BWS = Beckwith-Wiedemann syndrome; CLOVES = congenital lipomatous overgrowth, vascular malformations, epidermal nevis, spinal/skeletal anomalies/scoliosis; CS = Cowden syndrome; FCD = focal cortical dysplasia; GGS = Gorlin-Goltz syndrome; HMEG = hemimegalencephaly; KTS = Klippel-Trenaunay syndrome; LDD = Lhermitte-Duclos disease; M-CMTC = macrocephaly-cutis marmorata telangiectatica congenita; MCAP = megalencephaly-capillary malformation syndrome; MPPH = megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome; NF1 = neurofibromatosis type I; PHTS = phosphatase and tensin homolog hamartoma tumor syndrome; PI3K = phosphatidylinositol-3-kinase; PROS = PIK3CA-related overgrowth spectrum; PS = Proteus syndrome; SEGA = subependymal giant cell astrocytoma; TSC = tuberous sclerosis complex; WHO = World Health Organization; mTOR = mammalian target of rapamycin
Document Type: Research Article
Publication date: October 1, 2023
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