Mystery case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia.
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ABSTRACT:
SUBMITTER: Child ND
PROVIDER: S-EPMC3795595 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Publications
Mystery case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia.
Child Nicholas D ND Cascino Gregory D GD
Neurology 20130901 13
A 55-year-old man presented with seizures characterized by "tightening" of the right side and variable loss of awareness. EEG showed focal epileptogenic abnormalities over left and midline central regions. MRI showed left frontal focal cortical dysplasia (figure 1). He had multiple skin lesions (figure 2) and colonoscopy revealed gastrointestinal mucosal ganglioneuromas. Genetic testing of PTEN gene confirmed a diagnosis of Cowden syndrome (CS). ...[more]
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