Adachi Tadashi, Takigawa Hiroshi, Nomura Takashi, Watanabe Yasuhiro, Kowa Hisanori
Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Japan.
Intern Med. 2018 Jan 1;57(1):97-99. doi: 10.2169/internalmedicine.9052-17. Epub 2017 Oct 16.
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.
考登综合征是一种罕见的常染色体显性疾病，其特征为外胚层和脑的多发性错构瘤。一名36岁的日本男性在睡眠中出现右侧面部癫痫发作，随后入住我院。他在未发作时，舌面呈鹅卵石样改变且手掌有凹陷，但无神经学异常。脑磁共振成像显示左额叶局灶性皮质发育异常。脑电图显示左额叶病变处有尖波。基因分析发现了一种新的PTEN基因突变。卡马西平治疗终止了癫痫发作。这是首例报道的具有新PTEN基因突变和皮质发育异常的日本考登综合征病例。
