【双语病例】遗传性出血性毛细血管扩张症继发脑脓肿来源：双语学影像；本期病例选自AuntMinnie.com Our appreciation is extended to Dr. Po-Hao Chen, University of Pennsylvania Department of Radiology, for contributing this case. 
History and initial images HistoryA 69-year-old woman with severe headache and fever presents to the emergency department. Initial unenhanced head CT was negative for intracranial bleed. After obtaining additional history, a CT angiography of the thorax was performed. 69岁女性，因严重头疼、发热来急诊科就诊，最初行头颅CT平扫未见明显出血。随后仔细询问其他病史，并行胸部CTA检查。
Select images from an initial chest radiograph and chest CT are shown below. 
1.What is the most prominent finding?
Pulmonary embolism 肺动脉栓塞 Pulmonary arteriovenous malformation 肺动静脉畸形 Pulmonary nodule 肺内结节 Cardiomegaly 心影增大
2.Which of the following is LEAST likely to be the cause of this patient's headache?
下列哪项最不可能是患者头疼的原因？ Glioblastoma 胶质母细胞瘤 Abscess 脑脓肿 Cysticercosis 脑囊虫病 Metastatic disease 转移瘤
Enhanced CT images
After initial unenhanced head CT was negative, an enhanced head CT is subsequently obtained. 头颅CT增强扫描 
The clinicians requested this patient's outside enhanced abdominal CT, for which select images are displayed below. 外院上腹部CT增强扫描 
3.In the light of all imaging findings thus far, which of the following is the most likely diagnosis for the lesion in the region of the left thalamus?
根据以上影像资料，左侧丘脑的病灶最有可能的诊断是什么? Glioblastoma 胶质母细胞瘤 Neurocysticercosis 脑囊虫病 Brain abscess 脑脓肿 Cerebral vascular aneurysm 脑血管瘤
4.The abdominal images demonstrate hepatic arteriovenous malformations.
上腹部CT示肝动静脉畸形。 True False
5.In the light of all the imaging data, what is the most likely underlying diagnosis?
根据以上资料，最有可能的诊断是什么？ Hereditary hemorrhagic telangiectasia 原发性毛细血管扩张症 Wyburn-Mason syndrome怀梅二氏综合征（神经视网膜血管瘤综合征） Septic embolism 脓毒性栓塞
选择题答案：
Pulmonary arteriovenous malformation These metallic-density objects are most likely embolization coils. This is most likely secondary to prior embolization of arteriovenous malformations. 金属高密度影考虑为肺动静脉畸形栓塞的线圈，
Cysticercosis
Brain abscess Recurrent pulmonary arteriovenous malformations (as inferred by multiple, bilateral embolization coils and new AVM on the same-day CT) raises the possibility of hereditary hemorrhagic telangiectasia (HHT). A rim-enhancing brain mass in the setting of HHT puts brain abscess as the top differential diagnosis. 反复发作的肺动静脉畸形（由双侧多发栓塞线圈及同一天CT所见的新发AVM病灶判断）提示遗传性出血性毛细血管扩张症（ hereditary hemorrhagic telangiectasia，HHT)的可能。有HHT病史的脑内环形强化灶，应首先考虑脑脓肿的可能性。 True These lesions represent hepatic AVMs. Hepatic AVMs tend to be clinically silent so are not routinely screened. 肝内病灶考虑肝脏AVM。肝脏AVM通常没有临床症状，因此不用常规筛查。 Hereditary hemorrhagic telangiectasia
Findings
Initial chest radiograph: There are nodular opacities in the bilateral lungs that, in the context of numerous embolization coils, most likely represent pulmonary arteriovenous malformations. 最初胸片：两肺内结节影，结合肺内多个栓塞线圈，考虑肺动脉畸形。 Chest CT: Multiple bilateral pulmonary arterial venous malformations that have increased from 1990. Status post bilateral embolization. 胸部CT:两肺多发AVM栓塞术后，与1990年时相比，病灶数量增加。 Enhanced brain CT: A 2.9-cm rim-enhancing mass of the left thalamus with mild to moderate associated mass effect. In the context of hereditary hemorrhagic talengiectasia and clinical presentation of fever, this most likely represents an abscess. Though less likely, additional differential considerations include primary glial neoplasm or metastasis. 颅脑CT增强扫描：左侧丘脑区环形强化灶，直径约2.9cm，病灶可见轻至中度占位效应。结合患者诊断“遗传性出血性毛细血管扩张症”及发热症状，考虑肺脓肿。其他鉴别诊断包括低级别神经胶质肿瘤和转移瘤。 Abdominal CT: Numerous hepatic arteriovenous malformations are seen throughout the right and left hepatic lobes without active extravasation of contrast. 上腹部CT：肝脏左右叶多发AVM，未见明显造影剂外渗。
Diagnosis
Cerebral abscess secondary to hereditary hemorrhagic talengiectasia 遗传性出血性毛细血管扩张症继发脑脓肿
Discussion Also known by its eponym, Osler-Weber-Rendu syndrome, hereditary hemorrhagic telangiectasia is an autosomal dominant, rare condition caused by abnormal vascular structure. In telangiectasis, a postcapillary venule becomes markedly dilated and convoluted. Additionally, the connecting arterioles also become dilated and bypass the capillary bed to connect directly to the venules. There is perivascular infiltrate and thickened smooth muscle walls. The genetic predisposition has been linked to chromosome 9. 遗传性出血性毛细血管扩张症，根据其发现者的名字又称Osler-Weber-Rendu综合征，是一种罕见的常染色体显性遗传性血管异常。由于毛细血管扩张，毛细血管微静脉明显扩张、迂曲，小动脉也可见扩张，绕过毛细血管床直接与微静脉相连。血管周围渗出、血管壁平滑肌层增厚。
Clinical PresentationEpistaxis 鼻出血 Cutaneous telangiectases 皮肤毛细血管扩张 Multiple and bilateral pulmonary arteriovenous malformation (AVM)两肺多发肺动静脉畸形 Gastrointestinal tract - AVM and angiodysplasias of the liver, stomach, and small and large bowels 胃肠道：肝、胃、大肠、小肠的AVM或血管发育不良 Neurologic manifestations神经形态表现：
In patients with HHT, brain abscesses occur primarily in patients with pulmonary AVM. The pathogenesis of these brain abscesses are thought to arise from septic emboli passing through the AVM to the left-heart circulation, terminating in the small vessels of the brain. 毛细血管扩张症的患者在，脑脓肿好发生于肺动静脉畸形的患者。其病因主要是脓毒栓子穿过AVM、进入左心循环，最后终止于脑的小血管。
Although only a small number (5% in at least one study) of patients with HHT are found to have cerebral AVMs, the presence of cerebral AVM is highly suggestive of HHT (50%). 仅有少量的HHT患者发现脑动静脉畸形（5%），而脑AVM的发现高度提示HHT(50%).
Imaging Findings of HHT Contrast CT or CT angiography are used for lung and liver evaluation. Brain is best evaluated with contrast-enhanced MRI for cerebral AVM. 增强CT或CTA通常用于肺部和肝脏检查。颅脑AVM最好由MRI增强扫描评估。
Chest CTBriskly enhancing arteriovenous malformations, arteriovenous fistulas动静脉畸形病灶迅速强化，可见动静脉瘘 Brain MRT1-weighted imaging, T2-weighted imaging: Cerebral AVM (cAVM) with flow voids and hemorrhage T1WI、T2WI：脑AVM可见流空血管影及出血。
MR angiography: cAVMs; contrast administration enhances sensitivity for small cAVMs MRA：可见脑AVM；增强扫描可见小的AVM病灶强化。 MR venography: May demonstrate developmental venous anomalies MR静脉造影：可见发育异常的静脉血管
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