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Neurology. 2013 Sep 24;81(13):e98-9. doi: 10.1212/WNL.0b013e3182a55ef0.

Mystery case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia.

Author information

1
From the Department of Neurology, Mayo Clinic, Rochester, MN.

Abstract

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).

PMID:
24062348
PMCID:
PMC3795595
DOI:
10.1212/WNL.0b013e3182a55ef0
[Indexed for MEDLINE]
Free PMC Article

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