For VHL manifestations in the Central Nervous System (CNS), “There's a wide range of diagnosis. So, something like a retinal [eye] hemangioblastoma: those can be diagnosed at 12 years old or even earlier all the way up to 24. Cerebellar hemangioblastomas: the typical age of diagnosis is 18 to 24, and then brainstem hemangioblastoma, spinal cord hemangioblastones and the endolymphatic sac tumors [ELST, inner ear] which are less common … the range diagnosis is more like 24 to 36, so…
4:49 to 5:21 link
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"Pediatric children patients are particularly vulnerable at developing hemangioblastomas and you know while these tumors are benign, the morbidity from the mass effect** can be significant. And they can also have vision loss due to the retinal [eye] hemangioblastomas and they can have hemorrhages if the… cerebellar hemangiablastomas bleed... And since this is a germline mutation***, hemangioblastomas of the CNS can occur even before birth and they can be diagnosed at very young ages even before 10 years old… So it's important… to be able to diagnose them at an early age"
5:28 to 5:52 link
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**“Mass effect” is an umbrella term for the secondary side effects caused by a tumor growing within the brain… it can press on the surrounding brain tissue… Symptoms of mass effect can include: [fluid in the brain], Fatigue or drowsiness, Nausea and vomiting, Changes in personality or behavioral and Problems with vision. -braintumornetwork.org
***mutated VHL gene causes VHL syndrome
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