Mystery case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 24062348.
- Also identified by DOI 10.1212/WNL.0b013e3182a55ef0 and PMC identifier 3795595.
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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).
Medical subject headings
- Cerebral Cortex
- Epilepsies, Partial
- Hamartoma Syndrome, Multiple
- Malformations of Cortical Development