Von Hippel-Lindau (VHL) disease is a rare autosomal dominantly inherited multisystem disorder characterised by the development of a variety of benign and malignant tumours. We report a case of VHL disease that was inherited by a daughter from her father, who both presented at a young age with progressive headache and were found to have a posterior fossa haemangioblastoma (HB) on magnetic resonance imaging (MRI). Multiple benign pancreatic and renal cysts were also noted in both patients.
Von Hippel–Lindau (VHL) disease is a rare autosomal dominantly inherited multisystem disorder
characterised by the development of a variety of benign and malignant tumours. We report a case of
VHL disease that was inherited by a daughter from her father, who both presented at a young age
with progressive headache and were found to have a posterior fossa haemangioblastoma (HB) on
magnetic resonance imaging (MRI). Multiple benign pancreatic and renal cysts were also noted in
both patients.
Senior-Loken syndrome is a rare disorder that presents in the first two decades of life. It commonly manifests with nephronophthisis and retinal dystrophy. We describe a teenager who had end-stage renal failure presenting with bilateral visual impairment due to retinal dystrophy with concomitant unilateral Coats disease and exudative retinal detachment. The patient was treated with a combination of endolaser photocoagulation and external drainage of the subretinal fluid. The final visual acuity remained poor in both eyes. Options of treatment in this challenging situation is discussed in this case report.