Stroke in childhood has multiple etiologies, which are mostly distinct from those in adults. Genetic discoveries over the last decade pointed to monogenic disorders as a rare but significant cause of ischemic stroke in children and young adults, including small vessel and arterial ischemic stroke. These discoveries contributed to the understanding that stroke in children may be a sign of an underlying genetic disease. The identification of these diseases requires a detailed medical and family history collection, a careful clinical evaluation for the detection of systemic symptoms and signs, and neuroimaging assessment. Establishing an accurate etiological diagnosis and understanding the genetic risk factors for stroke are essential steps to decipher the underlying mechanisms, optimize the design of tailored prevention strategies, and facilitate the identification of novel therapeutic targets in some cases. Despite the increasing recognition of monogenic causes of stroke, genetic disorders remain understudied and therefore under-recognized in children with stroke. Increased awareness among healthcare providers is essential to facilitate accurate diagnosis in a timely manner. In this review, we provide a summary of the main single-gene disorders which may present as ischemic stroke in childhood and describe their clinical manifestations. We provide a set of practical suggestions for the diagnostic work up of these uncommon causes of stroke, based upon the stroke subtype and imaging characteristics that may suggest a monogenic diagnosis of ischemic stroke in children. Current hurdles in the genetic analyses of children with ischemic stroke as well as future prospectives are discussed.

儿童中风有多种病因，其中大部分与成人不同。过去十年的遗传学发现表明，单基因疾病是儿童和年轻人缺血性中风（包括小血管和动脉缺血性中风）的罕见但重要的原因。这些发现有助于认识到儿童中风可能是潜在遗传疾病的征兆。这些疾病的识别需要详细的病史和家族史收集、仔细的临床评估以检测全身症状和体征，以及神经影像学评估。建立准确的病因诊断并了解中风的遗传危险因素是破译潜在机制、优化设计定制预防策略的重要步骤，并在某些情况下促进新治疗靶点的识别。尽管人们越来越认识到中风的单基因原因，但对中风儿童遗传性疾病的研究仍然不足，因此对中风儿童的认识不足。提高医疗保健提供者的认识对于促进及时准确的诊断至关重要。在这篇综述中，我们总结了可能表现为儿童缺血性中风的主要单基因疾病，并描述了它们的临床表现。我们根据中风亚型和可能提示儿童缺血性中风单基因诊断的影像学特征，为这些不常见的中风原因的诊断工作提供了一套实用的建议。