PDF(Pubmed)
Abstract：
von Hippel-Lindau (VHL) syndrome (OMIM #193300) is an autosomal dominant disorder with incomplete penetrance occurring due to a mutation in the VHL gene present on chromosome 3. We present the case of a 21-year-old male with a history of retinoblastoma presenting with intermittent headaches for one month. He was a known hypertensive and his blood pressure on presentation was 180/100 mmHg. A secondary cause for his hypertension was sought. Multiple cysts in his pancreas, both his kidneys, and a mass in the right suprarenal fossa were detected on an abdominal ultrasonogram and a subsequent computed tomography scan of the abdomen. VHL and a pheochromocytoma were suspected, and a positron emission tomography-computed tomography scan was done which collaborated with the above findings. The presence of multiple cystic lesions in the pancreas and kidneys, especially in an individual with a family history of VHL syndrome, should alert the physician to the possibility of VHL syndrome. The need for evaluation of causes for hypertension, especially in young individuals with resistant hypertension, is also highlighted.
摘要：
vonHippel-Lindau（VHL）综合征（OMIM＃193300）是一种常染色体显性遗传性疾病，由于3号染色体上存在的VHL基因突变而发生不完全的外显率。我们介绍了一名21岁的男性，有视网膜母细胞瘤病史，并伴有间歇性头痛一个月。他是已知的高血压患者，他的血压为180/100mmHg。寻找他高血压的次要原因。他的胰腺有多个囊肿,他的两个肾脏,在腹部超声检查和随后的腹部计算机断层扫描中检测到右肾上窝的肿块。怀疑有VHL和嗜铬细胞瘤,并与上述发现合作进行了正电子发射断层扫描-计算机断层扫描。胰腺和肾脏存在多个囊性病变，特别是在有VHL综合征家族史的个体中，应提醒医生VHL综合征的可能性。需要评估高血压的原因，特别是在患有顽固性高血压的年轻人中，也突出了。
