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Amyotrophic lateral sclerosis
von Hippel-Lindau disease
Acoustic neuroma (schwannoma)
Adult brain tumors
Pediatric brain tumors
Transient ischemic attack
Cavernous sinus thrombosis
Spinocerebellar ataxia (NORD)
Tethered spinal cord syndrome
Lewy body dementia
Normal pressure hydrocephalus
Acute disseminated encephalomyelitis
Central pontine myelinolysis
JC virus (Progressive multifocal leukoencephalopathy)
Idiopathic intracranial hypertension
Opsoclonus myoclonus syndrome (NORD)
Restless legs syndrome
Early infantile epileptic encephalopathy (NORD)
Cauda equina syndrome
Treponema pallidum (Syphilis)
Vitamin B12 deficiency
Concussion and traumatic brain injury
Spinal muscular atrophy
Carpal tunnel syndrome
Thoracic outlet syndrome
Lambert-Eaton myasthenic syndrome
Adult brain tumors: Pathology review
Central nervous system infections: Pathology review
Cerebral vascular disease: Pathology review
Congenital neurological disorders: Pathology review
Dementia: Pathology review
Demyelinating disorders: Pathology review
Headaches: Pathology review
Movement disorders: Pathology review
Neurocutaneous disorders: Pathology review
Neuromuscular junction disorders: Pathology review
Pediatric brain tumors: Pathology review
Seizures: Pathology review
Spinal cord disorders: Pathology review
Traumatic brain injury: Pathology review
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Von Hippel-Lindau Disease
Adult CNS Tumors
Von Hippel-Lindau disease
von Hippel-Lindau disease p. 541, 727
Von Hippel-Lindau disease p. 541
von Hippel-Lindau disease p. 541
chromosome association p. 62
presentation p. 727
renal cell carcinoma and p. 619
tumor suppressor genes and p. 220
Von-Hippel Lindau or VHL is a genetic disease that affects people of all ethnicities and is characterized by tumor development in the CNS, kidneys, adrenal glands and pancreas.
Okay, the VHL gene is a tumor suppressor gene on the short arm of chromosome 3.
It codes for proteins that degrade hypoxia-inducible transcription factor, or HIF. HIF upregulates genes that code for platelet-derived and vascular endothelial growth factors, both of which promote new blood vessel formation and cell growth.
In VHL disease, this tumor suppressor gene is mutated which increases HIF, PDGF, VEGF, and ultimately the risk of tumor formation.
VHL disease is about as common as Huntington Disease, occurring in 1 in 36,000 people.
It is inherited in an autosomal dominant pattern, meaning that a VHL patient has a 50% chance of passing it on to each kid they have.
20% of VHL patients have a de novo or new mutation, meaning they are the first VHL patient in their family.
Alright, the most common tumor type in VHL is hemangioblastoma, a benign blood vessel tumor occurring in about 60% of VHL patients.
In the central nervous system, these can occur in the retina, brain, and spinal cord.
In the eyes, it can cause blindness by detaching the retina.
In the brain and spinal cord, a tumor or the accompanying cyst causes problems when it pushes against surrounding tissue.
For example, if the tumor is in the cerebellum, it can cause ataxia, or the loss of balance.
If it blocks the flow of cerebrospinal fluid, intracranial pressure can rise causing headaches, nausea, and vomiting.
Less common are benign cysts and cyst-like tumors called cystadenomas.
The most concerning, occurring in ~25% of VHL patients, is the endolymphatic sac tumor of the inner ear which can cause deafness.
Von-Hippel Lindau (VHL) is a genetic disease that increases the risk of tumor formation in the CNS, kidneys, adrenal glands, and pancreas. It is caused by a mutated tumor suppressor gene, VHL, which increases the risk of tumor formation by upregulating genes that promote cell growth. VHL is inherited in an autosomal dominant pattern and can lead to various benign and malignant tumors. Hemangioblastoma is the most common tumor type, occurring in about 60% of VHL patients, followed by clear cell renal cell carcinoma, pancreatic neuroendocrine tumors, and pheochromocytomas. Regular surveillance is crucial for improving quality of life and lifespan. Treatment recommendations depend on the tumor type and aim to preserve the function of the affected organ.
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