一名52岁的男性在危地马拉徒步旅行后出现右膝疼痛。回来后,他接受了膝关节MRI检查,有膝关节内侧疼痛的迹象,表现为内侧半月板撕裂。然而,MRI显示明显的动脉弯曲和致密钙化,在随后的射线照片上证实。回顾以往对腹部和下肢的CT研究,发现双侧股动脉和pop动脉严重扩张和动脉钙化,但主动脉和髂总动脉没有钙化.四肢双能CT研究显示腕关节周围软组织广泛钙化,手,脚踝和脚没有尿酸的证据。对电子病历的审查显示,由于CD73缺乏(ACDC)而诊断为动脉钙化,一种罕见的遗传性疾病,表现为手腕和手的衰弱性疼痛,小腿跛行,大腿和臀部,进展为可能危及肢体的足部慢性缺血。该患者参加了NIH双膦酸盐和双重抗血小板治疗的试验,症状稳定。这个案例讨论了这种罕见情况的影像学发现,要考虑的鉴别诊断,和当前的管理。
A 52-year-old male developed right knee pain after hiking in Guatemala. On his return he underwent a knee MRI for an indication of medial knee pain, which demonstrated a medial meniscal tear. However, the MRI demonstrated marked tortuosity and dense
calcification of the popliteal artery, confirmed on subsequent radiographs. Review of previous CT studies of the abdomen and lower extremities showed severe ectasia and arterial
calcification in the femoral and popliteal arteries bilaterally, but no calcifications in the aorta and common iliac arteries. Dual energy CT studies of the extremities demonstrated extensive periarticular soft tissue
calcification throughout the wrists, hands, ankle and feet without evidence of uric acid. Review of the electronic medical records revealed a diagnosis of Arterial
Calcification due to Deficiency of CD73 (ACDC), a rare genetic disorder presenting with debilitating pain in the wrists and hands, claudication of the calves, thighs and buttocks, progressing to chronic ischemia of the feet which may be limb-threatening. The patient was enrolled in an NIH trial of bisphosphonates and dual-antiplatelet therapy with stabilization of symptoms. This
case discusses the imaging findings of this rare condition, differential diagnosis to consider, and current management.