Mystery case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia.
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).
From the Department of Neurology, Mayo Clinic, Rochester, MN.
Nicholas D
ND
Child
Gregory D
GD
Cascino
D002540:Cerebral Cortex / Q000473:pathology*; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000150:complications*; D006223:Hamartoma Syndrome, Multiple / Q000150:complications*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications* / Q000473:pathology; D008875:Middle Aged