Rare Diseases Symptoms Automatic Extraction

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

[cowden syndrome]

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).

Diseases presenting "variable loss of awareness" symptom

  • cowden syndrome

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