title: CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.
abstract: Cardio-facio-cutaneous (CFC) syndrome is characterized by a variable degree of cognitive impairment, and multiple congenital anomalies including characteristic facies, cardiac, and ectodermal abnormalities. CFC syndrome is caused by mutations in the genes BRAF, MEK1, or MEK2. Here we provide a follow-up report on two patients presenting distinct facial appearance and other features of the syndrome, and we present the first molecular evidence of paternal origin for a CFC-causing germline mutation. Brain imaging revealed a lipoma of the corpus callosum and periventricular leukoencephalopathy as well as a hypoplastic corpus callosum, and defects in myelinization, in each patient, respectively. A review of the literature showed that, although non-specific, ventriculomegaly, hydrocephalus, and cortical atrophy represent the most frequent imaging findings of brain anomalies in CFC syndrome. CNS abnormalities are significant diagnostic features of CFC syndrome and a brain MRI is recommended in individuals diagnosed with CFC or suspected of having CFC syndrome.
authors.affiliation: Department of Pediatrics, University Hospital of Heraklion, Crete, Greece. ritsapap@yahoo.com
authors.forename: Eleftheria
authors.initials: E
authors.lastname: Papadopoulou
authors.forename: Stavros
authors.initials: S
authors.lastname: Sifakis
authors.forename: Katia
authors.initials: K
authors.lastname: Sol-Church
authors.forename: Eva
authors.initials: E
authors.lastname: Klein-Zighelboim
authors.forename: Deborah L
authors.initials: DL
authors.lastname: Stabley
authors.forename: Maria
authors.initials: M
authors.lastname: Raissaki
authors.forename: Karen W
authors.initials: KW
authors.lastname: Gripp
authors.forename: Maria
authors.initials: M
authors.lastname: Kalmanti
mesh_terms: D001483:Base Sequence; D001921:Brain / Q000002:abnormalities; D002490:Central Nervous System / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003952:Diagnostic Imaging; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D019066:Facies; D005183:Failure to Thrive / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D048369:MAP Kinase Kinase 1 / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D010290:Parents; D011247:Pregnancy
chemical_list: D048369:MAP Kinase Kinase 1; C482125:MAP2K1 protein, human