A girl, aged 4 years and 3 months, presented with cyanosis of the lips shortly after birth. She then experienced shortness of breath after activity 1 year ago and acrocyanosis 3 months ago, with obvious acropachy and toe deformity. Laboratory examinations revealed an increase in hemoglobin (178 g/L) and a reduction in arterial partial pressure of oxygen (37.7 mm Hg). Plain and contrast-enhanced CT scans of the lungs showed a large area of dense shadow and multiple nodules with clear boundaries in the right lower lung, as well as thickening of the arteries and dilatation of the veins in the right lower lung. Magnetic resonance angiography of the pulmonary artery showed large arteriovenous malformation in the lung. The child was diagnosed with congenital pulmonary arteriovenous fistula and was given interventional embolization of the pulmonary arterial fistula. The child was followed up at 3 months after surgery. The symptoms of shortness of breath and cyanosis disappeared, and activity tolerance, heart rate, hemoglobin, red blood cell count, and transcutaneous oxygen saturation all returned to normal.
4岁3月龄女性儿童，出生后即出现口唇发绀，1年前出现活动后气促，3个月前出现肢端发绀，伴明显杵状指/趾畸形。实验室检查示血红蛋白升高（178 g/L）、动脉血氧分压降低（37.7 mm Hg）。肺部CT平扫+增强见右下肺大片及多发小结节状边界清晰致密影，右下肺动脉增粗，右下肺静脉扩张。肺动脉磁共振血管成像检查显示巨大肺动静脉畸形。患儿确诊为先天性肺动静脉瘘，予介入下行肺动脉瘘栓塞术治疗。术后3个月随访，患儿气促、发绀等症状消失，活动耐量恢复正常，心率、血红蛋白浓度、红细胞计数、经皮血氧饱和度均恢复正常。