Bose Sharan, Rajalakshmi Kandasamy Venkataraju, Perumal Kumaresan Ananthakumar, Simon Jibin
Internal Medicine, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND.
Cureus. 2024 Jun 5;16(6):e61702. doi: 10.7759/cureus.61702. eCollection 2024 Jun.
von Hippel-Lindau (VHL) syndrome (OMIM #193300) is an autosomal dominant disorder with incomplete penetrance occurring due to a mutation in the 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.
冯·希佩尔-林道（VHL）综合征（OMIM #193300）是一种常染色体显性疾病，因3号染色体上的基因突变而发病，其外显率不完全。我们报告了一例21岁男性病例，该患者有视网膜母细胞瘤病史，出现间歇性头痛1个月。他已知患有高血压，就诊时血压为180/100 mmHg。对其高血压的继发原因进行了排查。腹部超声检查及随后的腹部计算机断层扫描发现其胰腺、双肾有多个囊肿，右肾上腺窝有一个肿块。怀疑为VHL综合征和嗜铬细胞瘤，遂进行了正电子发射断层扫描-计算机断层扫描，结果与上述发现相符。胰腺和肾脏中存在多个囊性病变，尤其是有VHL综合征家族史的个体，应提醒医生警惕VHL综合征的可能性。同时也强调了评估高血压病因的必要性，尤其是在患有顽固性高血压的年轻个体中。
