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Updated: Mar 3, 2026

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儿童中风与罕见的致病性PKP2变体相关:一个诊断挑战

Alaa Salman1, Mohamed O E Babiker1, Maria Khan2,3

  • 1Pediatric Neurology, Al Jalila Children's Specialty Hospital, Dubai, ARE.

Cureus
|March 2, 2026
PubMed
概括

儿科缺血性中风虽然很少发生在小脑中,但诊断可能具有挑战性. 基因测试发现了PKP2变体,突出了它在未解释的儿科中风病例中的潜在作用.

关键词:
发生心律失常的右心室发育不良症.诊断和治疗方面的挑战.基因诊断 基因诊断 基因诊断儿科中风 儿科中风在 pkp2 变种中,pkp2 变种是斑块基因蛋白-2 (pkp2) 突变

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Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
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