Clinical Profiles of Obstructive Hydrocephalus in Patient with Von Hippel–Lindau
Mohammed R. Naqeeb, Dina M. Abdulmannan
Abstract
Von-Hippel-Lindau (VHL) is an autosomal dominant disease that affects multiple systems that may result in benign and malignant multisystem tumors. The estimated incidence of VHL is 1 in 36,000 births. Disease incidence ranges from 10 to 40 years, with an average of 26 years, and it impacts diverse ethnic groups. VHL results from mutations in the germ line that have been mapped to chromosome 3P25. Currently, this is the only gene known to cause the syndrome. This study presented a case of obstructive hydrocephalus in a patient with VHL. A 19-year-old female was referred to the Eye Clinic for a diagnosis of papilledema. She began to experience vagal abdominal discomfort for no apparent reason. Per exam, the patient had 20/20 OD and 20/400 OS, with an intraocular pressure of 14 OU. The patient's MRI revealed a posterior fossa cranial cystic brain lesion that was obstructing the fourth ventricle and causing obstructive hydrocephalus. Early detection, management, and focal laser treatment of capillary hemangiomas in the retina's periphery led to favorable visual outcomes. Even after vitreoretinal surgery, the tumors may cause exudative retinal detachment and have an inferior visual prognosis if left untreated.
Keywords
Hemgioblastomas; hydrocephalus; von Hippel-Lindau disease
Chou A, Toon C, Pickett J, Gill AJ. von Hippel-Lindau syndrome. Front Horm Res. 2013;41:30–49. doi:10.1159/000345668.
Ben-Skowronek I, Kozaczuk S. Von Hippel-Lindau Syndrome. Horm Res Paediatr. 2015;84(3):145–52. doi:10.1159/000431323
Fugaru I, Goudie C, Capolicchio JP. Von Hippel-Lindau disease and rapidly progressing pheochromocytomas in siblings. Fam Cancer. 2022;21(2):229–33. doi:10.1007/s10689-021-00252-2.
Fowler JB, De Jesus O, Mesfin FB. Ventriculoperitoneal Shunt. In: StatPearls. Treasure Island (FL): StatPearls Publishing; August 23, 2023.
Fagundes GFC, Petenuci J, Lourenco DM Jr, Trarbach EB, Pereira MAA, Correa D'Eur JE, et al. New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations. J Endocr Soc. 2019;3(9):1682–92. doi:10.1210/js.2019-00225.
Faiyaz-Ul-Haque M JM, Aslam M, Abalkhail H, Al-Dayel F, Basit S, Nawaz Z, et al. Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease. Cancer Genet. 2020;243:1–6. doi:10.1016/j.cancergen.2020.02.006
Wittström E, Nordling M, Andréasson S. Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease. Ophthalmic Genet. 2014;35(2):91–106. doi:10.3109/13816810.2014.886265
Wiley HE KV, Gaudric A, Gorin MB, Shields C, Shields J, Aronow ME, et al. Management of retinal hemangioblastoma in von hippel-lindau disease. Retina (Philadelphia, Pa). 2019;39(12):2254–63.
Xu N, Duan W, Zhang R, Yang B. Imaging diagnosis of von hippel-lindau syndrome. J Craniofac Surg. 2019;30(7):e674–7. doi:10.1097/SCS.0000000000005760.
