Murthy Nikhil K, Potts Matthew B, Jahromi Babak
Department of Neurological Surgery, Northwestern University Feinberg School of Medicine, Chicago, USA.
Cureus. 2020 Feb 5;12(2):e6884. doi: 10.7759/cureus.6884.
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant condition that is associated with fibrofolliculomas, pulmonary cysts, renal cysts, and renal cancer. There have been few reports in the literature of intracranial vascular pathology in patients with BHD syndrome, and intracranial vascular pathology is currently not a part of the diagnostic criteria. Given the rarity of this disease, there has not been enough evidence for a definitive link between BHD syndrome and intracranial vascular abnormalities. We present a case of a patient with BHD syndrome and multiple cerebral aneurysms.
Birt-Hogg-Dubé（BHD）综合征是一种罕见的常染色体显性遗传病，与纤维毛囊瘤、肺囊肿、肾囊肿和肾癌相关。关于BHD综合征患者颅内血管病变的文献报道较少，且颅内血管病变目前并非诊断标准的一部分。鉴于该疾病的罕见性，尚无足够证据证实BHD综合征与颅内血管异常之间存在明确关联。我们报告一例患有BHD综合征并伴有多个脑动脉瘤的患者。
