This case report presents a 13-year-old patient with a lung nodule identified on a chest radiograph in the emergency department during an evaluation of knee and side pain after a fall. The patient had nosebleeds, family history of hereditary hemorrhagic telangiectasia (HHT) and after chest computed tomography with angiography, the nodule was defined as a single pulmonary arteriovenous malformation (PAVM). Neither parent nor patient had been evaluated for HHT, an autosomal dominant disease, despite the family history. This patient satisfied the clinical criteria for the diagnosis and had a confirmatory genetic test, which led to diagnosis in mother also. The patient's PAVMs were treated, decreasing the risk of life threatening complications. Diagnosing HHT in children is often delayed or missed, even in families with HHT, as in this case report. Without any physical signs or clinical symptoms, families and healthcare providers often dismiss the possibility of the diagnosis. Children with HHT are at the same risk for complications of stroke, anemia, hypoxemia, heart failure and increased morbidity as adults. It is essential to recognize the importance of family history when evaluating children in primary care and urgent settings, as this patient's diagnosis was delayed 13 years. Awareness of HHT signs and symptoms are essential to early referral to an HHT specialist, for diagnosis and management.

中文翻译：

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遗传性出血性毛细血管扩张症诊断：一例报告

本病例报告介绍了一名 13 岁患者，在急诊科评估跌倒后膝盖和侧面疼痛时，胸部 X 光片发现有肺结节。该患者有鼻出血、遗传性出血性毛细血管扩张症（HHT）家族史，经过胸部计算机断层扫描和血管造影后，该结节被定义为单一肺动静脉畸形（PAVM）。尽管有家族史，但父母和患者均未接受过 HHT（一种常染色体显性遗传病）评估。该患者符合诊断的临床标准，并进行了确认性基因检测，母亲也得到了诊断。患者的 PAVM 得到了治疗，降低了危及生命的并发症的风险。儿童 HHT 的诊断经常被延迟或漏诊，即使在患有 HHT 的家庭中也是如此，如本病例报告所示。如果没有任何体征或临床症状，家人和医疗保健提供者通常会忽略诊断的可能性。患有 HHT 的儿童与成人具有相同的中风、贫血、低氧血症、心力衰竭并发症和发病率增加的风险。在评估初级保健和紧急情况下的儿童时，必须认识到家族史的重要性，因为该患者的诊断延迟了 13 年。了解 HHT 体征和症状对于及早转诊至 HHT 专家进行诊断和治疗至关重要。