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15岁女孩突发抽搐并肺部多发结节
Sudden convulsion with multiple pulmonary nodules in a girl aged 15 years
15岁女童因抽搐1次，同时肺部CT发现肺结节入院。无肢端发绀，无明显杵状指/趾畸形。实验室检查示血红蛋白升高（162 g/L）、动脉血氧分压降低（61.5 mm Hg）。肺部CT提示右肺中叶见不规则稍高密度结节，增强扫描可见明显强化，局部见粗大血管影。追问病史发现患儿母亲有鼻衄、肺部肿物切除史及舌部毛细血管扩张表现。患儿确诊为肺动静脉畸形和遗传性出血性毛细血管扩张症，予介入下行肺动脉栓塞术治疗。术后当日患儿未吸氧下经皮血氧饱和度达98%。但术后3个月复查肺动脉造影提示肺血管畸形复发，因导丝无法进入分支动脉，未行封堵治疗，仍需长期随访。
A girl, aged 15 years, was admitted due to sudden convulsion once and multiple pulmonary nodules on lung CT. Acrocyanosis or acropachy/toe deformity was not observed. Laboratory examinations showed an increase in hemoglobin (162 g/L) and a reduction in arterial partial pressure of oxygen (61.5 mm Hg). Lung CT showed irregular slightly high-density nodules in the middle lobe of the right lung, and contrast-enhanced CT scan showed obvious enhancement with thick vascular shadow locally. An investigation of medical history revealed that the girl's mother had a history of epistaxis and resection of pulmonary mass and the girl presented with tongue telangiectasia. The girl was diagnosed with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformation. she was given interventional embolization therapy. Transcutaneous oxygen saturation reached 98% without oxygen inhalation on the day after surgery. Pulmonary angiography at 3 months after surgery showed the recurrence of pulmonary vascular malformation, and embolization of pulmonary arterial fistula was not performed since the guide wire could not enter the branch artery. There was still a need for long-term follow-up.
肺动静脉畸形 / 遗传性出血性毛细血管扩张症 / 介入栓塞治疗 / 儿童
Pulmonary arteriovenous malformation / Hereditary hemorrhagic telangiectasia / Interventional embolization therapy / Child
[1] Santhirapala V, Chamali B, McKernan H, et al. Orthodeoxia and postural orthostatic tachycardia in patients with pulmonary arteriovenous malformations:a prospective 8-year series[J]. Thorax, 2014, 69(11):1046-1047.
[2] Chung MG. Hereditary hemorrhagic telangiectasia[J]. Handb Clin Neurol, 2015, 132:185-197.
[3] Faughnan ME, Palda VA, Garcia-Tsao G, et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia[J]. J Med Genet, 2011, 48(2):73-87.
[4] Cartin-Ceba R, Swanson KL, Krowka MJ. Pulmonary arteriovenous malformations[J]. Chest, 2013, 144(3):1033-1044.
[5] Circo S, Gossage JR. Pulmonary vascular complications of hereditary haemorrhagic telangiectasia[J]. Curr Opin Pulm Med, 2014, 20(5):421-428.
[6] Iyer VN, Brinjikji W, Apala D, et al. Impact of age on outcomes in hospitalized patients with hereditary hemorrhagic telangiectasia[J]. Adv Hematol, 2018, 2018:4798425.
[7] Pierucci P, Lenato GM, Suppressa P, et al. A long diagnostic delay in patients with hereditary haemorrhagic telangiectasia:a questionnaire-based retrospective study[J]. Orphanet J Rare Dis, 2012, 7:33.
[8] Morgan T, McDonald J, Anderson C, et al. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)[J]. Pediatrics, 2002, 109(1):E12.
[9] Patel T, Elphick A, Jackson JE, et al. Injections of intravenous contrast for computerized tomography scans precipitate migraines in hereditary hemorrhagic telangiectasia subjects at risk of paradoxical emboli:implications for right-to-left shunt risks[J]. Headache, 2016, 56(10):1659-1663.
[10] Fatania G, Patel M, Jackson JE. et al. P175 burden of cerebral infarcts identified by screening cerebral mri scans in patients with pulmonary arteriovenous malformations[J]. Thorax, 2017, 72(Suppl 3):A177.
[11] de Gussem EM, Edwards CP, Hosman AE, et al. Life expectancy of parents with hereditary haemorrhagic telangiectasia[J]. Orphanet J Rare Dis, 2016, 11:46.
[12] 赵亚丽, 张媛, 王向东, 等. 遗传性出血性毛细血管扩张症临床及基因检测综合诊断的应用[J]. 中国耳鼻咽喉头颈外科, 2018, 25(9):507-511.
[13] van Gent MW, Post MC, Snijder RJ, et al. Real prevalence of pulmonary right-to-left shunt according to genotype in patients with hereditary hemorrhagic telangiectasia:a transthoracic contrast echocardiography study[J]. Chest, 2010, 138(4):833-839.
[14] Shovlin CL, Condliffe R, Donaldson JW, et al. British thoracic society clinical statement on pulmonary arteriovenous malformations[J]. Thorax, 2017, 72(12):1154-1163.
[15] Chamarthy MR, Park H, Sutphin P, et al. Pulmonary arteriovenous malformations:endovascular therapy[J]. Cardiovasc Diagn Ther, 2018, 8(3):338-349.
[16] 吴茂兰, 郑湘榕, 朱彦潼, 等. 4岁3月龄女孩发绀4年余[J]. 中国当代儿科杂志, 2020, 22(4):387-390.
[17] Ojeda-Fernández L, Recio-Poveda L, Aristorena M, et al. Mice lacking endoglin in macrophages show an impaired immune response[J]. PLoS Genet, 2016, 12(3):e1005935.
[18] 戚春厚, 宗焕波, 李俊, 等. 肺动静脉畸形经导管弹簧圈栓塞治疗复发类型分析与再治疗[J]. 临床放射学杂志, 2017, 36(2):279-282.
