AUTHOR=Li Yaheng , Xin Xiaohong , Song Wenzhu , Zhang Xuan , Chen Shengli , Wang Qian , Li Aizhong , Li Yafeng 

TITLE=VHL syndrome without clear family history: A rare case report and literature review of Chinese patients

JOURNAL=Frontiers in Neurology

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.951054

DOI=10.3389/fneur.2022.951054

ISSN=1664-2295

ABSTRACT=Objective To analyze the clinical manifestations and imaging features of a hospitalized patient with intermittent headache who was finally diagnosed with von Hippel-Lindau (VHL) syndrome, and to perform whole-exon gene detection to improve the understanding of the diagnosis and treatment strategies of the disease. Methods A case of suspected VHL syndrome in Shanxi Provincial People's Hospital was analyzed. Proband DNA was also extracted for whole exome sequencing and screened for causative mutation sites, which were validated by Sanger sequencing. The literatures about VHL gene mutations in Chinese patients in the past ten years were also reviewed. Results There is a heterozygous mutation site c.499C > G on the VHL gene on the short arm of chromosome 3 of the patient, which is a missense mutation. The mutation results in the substitution of arginine with glycine at amino acid 167 of the encoded protein, which may be primarily responsible for the disease in the patient with VHL syndrome  However, the mutation did not occur in other family members. Conclusion Early recognition and treatment of VHL syndrome can be available with the genetic testing technology. Strengthening the understanding of this complex genetic disease and improving the diagnostic rate of VHL syndrome are helpful for precise treatment of patients with this disease , which may help prolong the survival time of patients to a certain extent and improve the patient's quality of life.