title: Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.
abstract: Cardiofaciocutaneous Syndrome (CFCS) is a rare genetic syndrome caused by mutations in one of four genes: BRAF, MAP2K1, MAP2K2, and KRAS. There is tremendous phenotypic heterogeneity in patients with CFCS and so confirmation of diagnosis requires genetic testing. Neurologic and/or cognitive symptoms are present in almost all CFCS individuals. Little is known about cognitive function in older patients with CFCS. In this report, we present the cognitive, neuropsychiatric, and imaging findings of a patient diagnosed with CFCS who after having remained stable developed progressive cognitive/behavioral and motor decline.
authors: University Health Network Memory Clinic, Toronto, Ontario, Canada.
authors: Sergio
authors: S
authors: Cabrera
authors: ​​​​Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada.
authors: Chantal
authors: C
authors: Morel
authors: University Health Network Memory Clinic, Toronto, Ontario, Canada.|Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
authors: Maria Carmela
authors: MC
authors: Tartaglia
mesh_terms: D000328:Adult; D001418:Baclofen / Q000008:administration & dosage; D001921:Brain / Q000187:drug effects / Q000473:pathology; D060825:Cognitive Dysfunction / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D004476:Ectodermal Dysplasia / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D019066:Facies; D005183:Failure to Thrive / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D001418:Baclofen
keywords: Cardiofaciocutaneous syndrome; RASopathies; cognitive decline