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具有挑战性的诊断:单心卡斯特曼病的不寻常表现 - - 一份病例报告

Omran Khaled Janoud1, Raya Ehsan Alok1, Khozama Ali Amer1

  • 1Faculty of Medicine, Damascus University, Damascus, Syria.

Oxford medical case reports
|February 24, 2025
PubMed
概括

这份报告详细介绍了一个罕见的儿童病例 - - 卡斯特曼.

关键词:
卡斯特曼病是什么?卡斯特曼病是什么?儿科 儿科 儿科单心卡斯特勒曼病是一种单心的卡斯特勒曼病.inguinal 淋巴结 inguinal 淋巴结 inguinal 淋巴结 inguinal 淋巴结 inguinal 淋巴结手术 手术 手术 手术 手术 手术 手术

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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...