PDF(Pubmed)
Abstract：
Cruveilhier-Baumgarten syndrome presents a rare manifestation of portal hypertension characterized by a portosystemic shunt through a dilated paraumbilical vein, typically accompanied by classical signs such as caput medusae and a venous hum. We report a compelling case of a 41-year-old male presenting with portal hypertension, exhibiting clinical and radiological features of Cruveilhier-Baumgarten syndrome but notably lacking the characteristic venous hum. Clinical examination revealed moderate splenomegaly with prominent dilated veins and venous thrill but no caput medusae. Laboratory investigations indicated thrombocytopenia and esophageal varices on upper GI endoscopy. Imaging studies confirmed portal hypertension with findings consistent with Cruveilhier-Baumgarten syndrome, including a dilated paraumbilical vein and splenic artery aneurysms, along with the unexpected absence of a venous hum. Despite the classical radiological features, our patient did not present with hematemesis, possibly attributed to the presence of paraumbilical veins. This case highlights the diagnostic challenges and atypical presentations of Cruveilhier-Baumgarten syndrome, emphasizing the importance of comprehensive clinical evaluation and imaging modalities in its diagnosis and management. Management strategies primarily focus on addressing portal hypertension and underlying liver disease. This case underscores the need for further research to elucidate the varied clinical presentations and pathophysiology of Cruveilhier-Baumgarten syndrome variants, enhancing our understanding and management of this rare entity.
摘要：
Cruveilhier-Baumgarten综合征表现为门静脉高压症的罕见表现，其特征是通过扩张的脐旁静脉进行门体分流。通常伴有经典体征，如水母和静脉嗡嗡声。我们报告了一个令人信服的病例，一个41岁的男性出现门静脉高压症，表现出Cruveilhier-Baumgarten综合征的临床和放射学特征，但明显缺乏特征性的静脉嗡嗡声。临床检查显示中度脾肿大，明显扩张静脉和静脉刺激，但无脉络膜。实验室检查显示血小板减少症和食管静脉曲张。影像学研究证实门静脉高压症的发现与Cruveilhier-Baumgarten综合征一致，包括扩张的脐静脉旁动脉瘤和脾动脉瘤,伴随着意外的静脉嗡嗡声的消失。尽管有经典的放射学特征，我们的病人没有出现呕血，可能归因于脐旁静脉的存在。该病例突出了Cruveilhier-Baumgarten综合征的诊断挑战和非典型表现，强调在其诊断和管理中全面的临床评估和成像方式的重要性。管理策略主要集中在解决门静脉高压症和基础肝病。此病例强调需要进一步研究以阐明Cruveilhier-Baumgarten综合征变体的各种临床表现和病理生理学，加强我们对这个稀有实体的理解和管理。
