童年发烧和听力损失与CAPOS综合征相关
Shinsuke Kaneshiro1, Harukazu Hiraumi2, Yumiko Kobayashi3
1Department of Otorhinolaryngology - Head and Neck Surgery, Iwate Medical University, 2-1-1, Nishitokuda, Yahaba-cho, Shiwa-gun, Iwate 238-3694, Japan.
Auris, nasus, larynx
|May 31, 2024
概括
CAPOS综合征是一种罕见的遗传疾病,是由ATP1A3基因突变引起的. 这一案例突显了CAPOS综合征患者的感觉神经听力损失和听觉响应差异.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
背景情况:
- 卡波斯综合征 (大脑缩,反弹,腔,视力缩,神经感官听力损失) 是一种罕见的遗传性疾病.
- 它的特征在于ATP1A3基因中的异合突变,c.2452G>A.
- 这种综合症通常涉及神经病变,在儿童发烧后发展.
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