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Teaching Neuro Images

Teaching Neuro Images. Focal epilepsy with skin changes . Case Vignette. 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

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Teaching Neuro Images

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  1. Teaching NeuroImages Focal epilepsy with skin changes

  2. Case Vignette • 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 • Skin examination revealed cobblestoning over his lower jaw, acral keratoses over his dorsal hands and palmar pitting. • Colonoscopy revealed multiple gastrointestinal mucosal ganglioneuromas Child N et al

  3. Imaging Child N et al

  4. Cowden Syndrome presenting with partial epilepsy related to focal cortical dysplasia • Genetic testing of PTEN gene confirmed a diagnosis of Cowden syndrome (CS). • PTEN gene is a tumor suppressor gene on the mTOR pathway • CS is an autosomal dominant condition of hamartomas and tumors1. • MRI is abnormal in 35%, commonly showing, dysplastic gangliocytomas of cerebellum, meningiomas, and vascular malformations2. • CS has not been reported presenting with partial epilepsy and focal cortical dysplasia. Child N et al

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