A 50-year-old man with a medical history of “elephantiasis” of the legs, status post left above the knee amputation with prosthetic limb, and hypothyroidism presented with 1 week of headache and nausea. The headache was continuous, with gradual worsening over the 7 days prior to admission, and he had minimal relief with ibuprofen. On the second day, he developed nausea. He denied any history of headaches, blurred or double vision, numbness, weakness, tingling, loss of balance, vertigo, chest pain, palpitations, or shortness of breath. In the emergency room, he was afebrile with a heart rate of 78 beats per minute and regular, and a blood pressure of 132/78 mm Hg. General physical examination revealed right leg hyper trophy with hyper pigmentation, and edema more prominent distally (tree-barking) (figure1). A comprehensive neurologic examination had normal results. Basic laboratory tests including complete blood count, basic metabolic panel, and thyroid tests were within normal limits. Head CT showed a hypodensity in the left cerebellar hemisphere (figure 1).
50岁男性患者，因头痛恶心1周入院。既往有双腿象皮肿及甲状腺功能低下病史，患者左膝关节以上截肢术后，已安装假肢。头痛呈持续性，入院前7天内逐渐进展，口服布洛芬缓解不明显。头痛第二天出现恶心。既往无视物模糊或复视，无肢体麻木、无肢体无力，无耳鸣，无平衡障碍及眩晕，无胸痛，无心悸、气短。入院查体：体温正常，心率78次/分，律齐，血压132/78mmHg。一般体格检查：右腿肿胀，远端明显（如剥皮的树干，见图1)，伴色素沉积。神经系统查体正常。实验室检查示全血细胞计数、血生化和甲状腺功能检查均在正常范围内，头部CT显示左侧小脑半球的低密度（图1）。
Question for consideration:
1. What is your differential diagnosis?
问题：
1.你考虑哪些鉴别诊断？
（A)患者右腿肿胀，伴色素沉积，如剥皮的树干。（B)头CT平扫示左侧小脑低密度影。
The patient has a subacute headache with a CT scan showing a hypodensity in the left cerebellar hemisphere. The most likely etiology of the patient’s findings is a cerebellar stroke, which typically presents acutely and is more likely to be associated with headache at onset than strokes in other locations.1 Other possible causes of cerebellar hypodensity on CT scan include an inflammatory cerebellitis or a cerebellar tumor. The normal neurologic examination does not exclude a vascular etiology since the absence of cerebellar findings on examination is not uncommon in patients with cerebellar stroke.2
患者表现为亚急性头痛，头颅CT显示左侧小脑半球低密度影。其最可能的病因是脑梗死，典型表现是急性起病的头痛（与其他部位相比较）。CT扫描显示低密度的其他可能原因包括炎症或肿瘤。由于部分小脑梗死的患者神经系统查体无阳性体征，因此查体无异常不能排除血管性病因。
The patient had a brain MRI that showed an acute left cerebellar infarction and another small acute infarct in the left corona radiata (figure 2). Magnetic resonance angiography head and neck were within normal limits.
患者行头颅MRI显示左侧小脑急性梗塞及放射冠急性小梗死灶（图2）。头颈部血管成像显示正常。
Question for consideration:
1. What is your next step in the management of this patient?
问题：
1. 该患者下一步如何处理？MRI显示急性左侧小脑梗死及放射冠小梗死。
The brain MRI showed infarcts in multiple vascular territories in both the posterior and anterior circulation (left posterior inferior cerebellar artery and left middle cerebral artery), which is a pattern typically considered suggestive of a proximal cardio-aortic embolic source, but that may also be seen with other etiologies such as vasculitis and multifocal atherosclerosis3 Given that his vessel imaging did not demonstrate a stenosis, a cardiac source was highly suspected. Electrocardiogram and inpatient telemetry showed no evidence of atrial fibrillation. A transthoracic echocardiogram with agitated saline injection was performed, demonstrating right to left shunting consistent with a patent foramen ovale (PFO) without an associated atrial septal aneurysm, and this was confirmed by a transesophageal echocardiogram. Given the association between lower extremity and pelvic thrombi and cryptogenic stroke in patientswith a PFO,4 the patient underwent lower extremity Doppler imaging and magnetic resonance venography (MRV) of the pelvis that showed no definite evidence of venous thrombi. The pelvic MRV, however, showed extensive pelvic varices (figure 3). The patient was started on aspirin that was later held due to hemorrhoidal bleeding requiring blood transfusion.
头颅MRI显示前后循环多个血管供血区（左侧小脑后下动脉和左侧大脑中动脉）梗死，通常提示来自近心端主动脉的栓子来源，也可见于其它病因包括血管炎和多灶性动脉粥样硬化。鉴于血管成像未显示狭窄，高度怀疑心源性。心电图检查和监护未发现心房纤颤证据。盐水注射经胸超声心动图显示右向左的分流，符合卵圆孔未闭（PFO），不伴房间隔动脉瘤，同时经食管超声心动图检查也进一步证实。考虑到下肢、盆腔血栓及PFO可能导致隐源性脑卒中，行下肢Dopller成像和骨盆的核磁静脉成像，未发现静脉血栓的证据。然而骨盆的MRV显示广泛的骨盆静脉曲张（图3）。患者口服阿司匹林，但由于痔疮出血需输血而停用。
Consideration of deep vein thrombosis as a potential source of paradoxical embolism led to a re-evaluation of the patient’s diagnosis of elephantiasis. A more thorough dermatologic examination revealed extensive purplish discoloration of the skin of the hypertrophied leg as well as of the abdomen and back (figure 3).
考虑到深部静脉血栓是反常栓塞的潜在来源，我们对患者象皮肿的诊断进行了再评价。进一步的全面皮肤检查显示广泛的皮肤紫色色素沉着，除了腿，还包括腹部和后背（图3）。
Questions for consideration:
1. What is the likely diagnosis?
2. How would you manage the patient now?
问题：
1. 患者的可能诊断是什么？
2. 目前患者该如何治疗？
图3. 患者的皮肤照片和核磁共振静脉成像
（A）腹部和背部有大面积的紫色色素沉积。
（B）骨盆的核磁共振静脉成像显示有广泛的骨盆血管静脉曲张（箭头）。
The patient had evidence of diffuse capillary malformations, lower extremity hypertrophy, widespread varicosities, and possible paradoxical embolism suggestive of Klippel-Trenaunay syndrome (KTS).
患者弥漫性的毛细血管畸形，下肢肢端肥大，广泛的静脉曲张及可能的反常栓塞，提示Klippel-Trenaunay 综合征（KTS)。
The prevalence of KTS is 1/20,000 to 1/100,000. It consists of diffuse capillary, venous, and lymphatic malformations and abnormal bone or soft tissue growth (e.g., leg hypertrophy).5 It is strongly associated with risk of venous thromboembolism or pulmonary embolism(;50%), which likely occurs in these tting of stasis in enlarged distorted venous malformations.6 It may also be associated with ischemic strokes7 and intracranial aneurysms.8 No gene has been identified as a cause of this syndrome although it is thought to be related to a factor involved in embryogenic angiogenesis.5
KTS的发病率为1/20,000到1/100,000。其特点是弥漫的毛细血管、静脉和淋巴管畸形、骨或软组织的异常生长（如下肢肥大）。KTS与静脉的血栓形成及肺栓塞密切相关（~50%），后者易发生于静脉扩张畸形的瘀滞期。KTS也与缺血性卒中及颅内动脉瘤相关。尽管人们认为它与胚型血管形成有关，但至今没有发现该综合征的相关基因。
Given the increased risk of deep venous thrombosis in patients with KTS, the embolic pattern of the patient’s infarcts on MRI, and the presence of a PFO, paradoxical embolism was thought the most likely stroke mechanism. Obtaining an MRI helped identify another clinically silent infarct in a different vascular territory, which raised the suspicion for a cardio-aortic embolic source.
鉴于KTS患者存在较高的深静脉血栓形成的风险，患者MRI提示梗塞为栓子源性，PFO的存在和反常栓塞被认为是最有可能的脑卒中发生机制。MRI有助于鉴别临床上不同血管供应区的无症状梗死，多提示有心源性栓塞来源的可能。
While the use of chronic anticoagulation may be a reasonable stroke prevention strategy given the high risk of thrombotic complications with this disease, in patients with KTS and gastrointestinal involvement there is a significant competing risk of life threatening gastrointestinal bleeding.9 PFO is found in about 25% of the normal population and is more common in patients with cryptogenic stroke than other stroke subtypes. The medical and surgical treatment of PFO is controversial.3 Although there is lack of evidence to support the routine closure of PFO in patients with cryptogenic stroke pending results of ongoing trials,10 it was performed in this patient given the risk of recurrent paradoxical embolism and the relative contraindication to long-term anticoagulation.
鉴于KTS患者发生血栓并发症及胃肠道受累出现致命的胃肠道出血的风险较高，应用长效的抗凝药可能是预防卒中的有效方法。25%的正常人群合并有PFO，与其他类型的卒中患者相比，PFO在隐源性卒中患者中更常见。关于PFO的药物治疗和外科手术仍存在争议。鉴于大量的试验仍在进行，目前仍缺乏支持对隐源性卒中患者PFO进行常规的封堵治疗证据。但针对本患者，由于存在反复发作的反常栓塞和相对禁忌的长期抗凝的情况，进行了PFO的封堵。
In patients with cryptogenic stroke, a careful skin and musculoskeletal examination may help determine the stroke mechanism. While evidence-based medicine suggests no benefit of PFO closure over medical therapy in general, in this patient with substantial bleeding risk in the context of chronic anticoagulation, PFO closure may be a reasonable stroke prevention strategy to prevent recurrent paradoxical embolism.
对于那些有隐源性卒中的患者，进行细致的皮肤和肌肉骨骼检查有助于确定卒中的原因。尽管循证医学表明PFO封堵并不比药物治疗的获益更多，由于本患者长期抗凝治疗可能增加出血风险，因此PFO封堵可能是比较合理的脑卒中预防策略，阻止反复出现的反常栓塞。
（全文终）
Use your smile to change the world. Don't let the world change your smile.
用你的笑容去改变世界，别让世界改变了你的笑容。
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：李神经群招贤榜--招募病历讨论总结员，公众号编辑的通知【公告】
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