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.
Keywords:
Cardiofaciocutaneous syndrome; RASopathies; cognitive decline.
© 2016 Wiley Periodicals, Inc.
MeSH terms
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Adult
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Baclofen / administration & dosage
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Brain / drug effects
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Brain / pathology
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Cognitive Dysfunction / diagnostic imaging
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Cognitive Dysfunction / drug therapy
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Cognitive Dysfunction / genetics
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Cognitive Dysfunction / physiopathology*
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Ectodermal Dysplasia / diagnostic imaging
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Ectodermal Dysplasia / drug therapy
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Ectodermal Dysplasia / genetics
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Ectodermal Dysplasia / physiopathology*
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Facies
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Failure to Thrive / diagnostic imaging
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Failure to Thrive / drug therapy
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Failure to Thrive / genetics
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Failure to Thrive / physiopathology*
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Heart Defects, Congenital / diagnostic imaging*
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Heart Defects, Congenital / drug therapy
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Heart Defects, Congenital / genetics
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Heart Defects, Congenital / physiopathology
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Humans
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Male
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Proto-Oncogene Proteins B-raf / genetics
Substances
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BRAF protein, human
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Proto-Oncogene Proteins B-raf
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Baclofen
Supplementary concepts
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Cardiofaciocutaneous syndrome