婴儿体内出血,大脑,皮疹和发育迟缓:NLRP3的一个致病变体导致CINCA/NOMID
Ajay S Koti1, Aviya Lanis2, Samuel Finlayson3
1Safe Child and Adolescent Network, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, Washington, USA.
American journal of medical genetics. Part A
|August 7, 2023
概括
婴儿的体外出血可以模仿滥用头部创伤. 一个多学科的方法确定了一个遗传性疾病,慢性婴儿神经,皮肤和关节综合征,导致成功治疗.
科学领域:
- 儿科神经学 儿科神经学
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
背景情况:
- 儿童的体外出血 (SDH) 经常与滥用头部创伤 (AHT) 相关.
- 然而,SDH也可能发生在非创伤性条件下,经常呈现出明显的临床特征.
- 区分创伤性和非创伤性SDH对于准确的诊断和管理至关重要.
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