teaching neuro images
Post on 24-Feb-2016
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Teaching NeuroImages
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• 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
Imaging
Child N et al
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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