此病例报告介绍了一名13岁的患者,在跌倒后评估膝盖和侧面疼痛时,在急诊科的胸部X光片上发现了肺结节。病人流鼻血,遗传性出血性毛细血管扩张症(HHT)家族史和胸部CT血管造影后,结节定义为单发肺动静脉畸形(PAVM).父母和患者均未接受过HHT评估,常染色体显性疾病,尽管有家族史。该患者符合诊断的临床标准,并进行了确认性基因测试,这也导致了母亲的诊断。患者的PAVM得到了治疗,降低危及生命的并发症的风险。儿童HHT的诊断通常会延迟或错过,即使在有HHT的家庭中,在这个案例报告中。没有任何体征或临床症状,家庭和医疗保健提供者通常不考虑诊断的可能性。患有HHT的儿童中风并发症的风险相同,贫血,低氧血症,心力衰竭和成人发病率增加。在评估初级保健和紧急环境中的儿童时,必须认识到家族史的重要性,因为这个病人的诊断被推迟了13年。意识到HHT的体征和症状对于早期转诊至HHT专家至关重要。用于诊断和管理。
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.