病例报告：腺苷脱氨酶 2（DADA2）缺乏症导致 3 岁女孩脑干卒中及早期快速基因诊断对影响治疗的重要性。
Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy.
机构信息
Division of Neuropaediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany.
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
出版信息
Neuropediatrics. 2022 Dec;53(6):432-435. doi: 10.1055/a-1896-5817. Epub 2022 Jul 11.
Deficiency of adenosine deaminase 2 (DADA2) is a rare Mendelian, autoinflammatory multiorgan disease. We report the case of a 3.8-year-old female patient who was admitted with an acute brainstem stroke and was diagnosed with DADA2 by early initiation of exome sequencing. We recommend that DADA2 and a genetic workup should be taken into account, when evaluating strokes in children even if no other than neurological symptoms are evident.
腺苷脱氨酶 2 缺乏症（DADA2）是一种罕见的孟德尔自身炎症性多系统疾病。我们报告了一例 3.8 岁女性患者，因急性脑干卒中入院，通过早期外显子组测序诊断为 DADA2。我们建议，在评估儿童脑卒中时，即使没有明显的神经系统症状，也应考虑 DADA2 和基因检查。
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