Cowden Syndrome with a Novel <i>PTEN</i> Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia
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- Adachi Tadashi
- Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Japan
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- Takigawa Hiroshi
- Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Japan
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- Nomura Takashi
- Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Japan
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- Watanabe Yasuhiro
- Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Japan
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- Kowa Hisanori
- Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Japan
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Description
<p>Cowden syndrome is a rare autosomal dominant disorder characterized by multiple hamartomas of the ectoderm and brain. A 36-year-old Japanese man presented with right facial seizure during sleep and was admitted to our hospital. He showed cobblestoning over the tongue and palmar pitting but no neurological abnormalities while he was not having a seizure. Brain magnetic resonance imaging showed focal cortical dysplasia in the left frontal lobe. Electroencephalography showed sharp waves over the left frontal lesion. A genetic analysis revealed a novel mutation of PTEN. The administration of carbamazepine ended the seizures. This is the first Japanese case of Cowden syndrome with a novel PTEN gene mutation and cortical dysplasia. </p>
Journal
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- Internal Medicine
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Internal Medicine 57 (1), 97-99, 2018
The Japanese Society of Internal Medicine
