Space Occupying Lesions Flashcards

Question

what is von hippel lindau disease?

Answer 1

Von Hippel–Lindau (VHL) disease is a rare, autosomal dominant genetic condition that predisposes individuals to benign and malignant tumours. The most common tumours found in VHL are central nervous system and retinal hemangioblastomas, clear cell renal carcinomas, pheochromocytomas, pancreatic neuroendocrine tumours, pancreatic cysts, endolymphatic sac tumors and epididymal papillary cystadenomas.[1][2] VHL results from a mutation in the von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.[3] Signs and symptoms associated with VHL disease include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Conditions associated with VHL disease include angiomatosis, hemangioblastomas, pheochromocytoma, renal cell carcinoma, pancreatic cysts (pancreatic serous cystadenoma) and café au lait spots.[5] Angiomatosis occurs in 37.2% of patients presenting with VHL disease and usually occurs in the retina. As a result, loss of vision is very common. However, other organs can be affected: strokes, heart attacks, and cardiovascular disease are common additional symptoms.[3] Approximately 40% of VHL disease presents with CNS hemangioblastomas and they are present in around 60-80%. Spinal hemangioblastomas are more specific for VHL disease as 80% are found in the disease.[6][7]

Answer 2

Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma. It is characterized by abnormal blood vessels on the brain surface. Normally, only one side of the brain is affected. Sturge-Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary etiology).

Answer 3

Ataxia telangiectasia (A-T) (also referred to as Louis–Bar syndrome) is a rare, neurodegenerative, inherited disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.[1] A-T affects many parts of the body: It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. It weakens the immune system causing a predisposition to infection. It prevents repair of broken DNA, increasing the risk of cancer. Symptoms most often first appear in early childhood (the toddler stage) when children begin to walk. Though they usually start walking at a normal age, they wobble or sway when walking, standing still or sitting, and may appear almost as if they are drunk. In late pre-school and early school age they develop difficulty moving the eyes in a natural manner from one place to the next (oculomotor apraxia). They develop slurred or distorted speech, and swallowing problems. Some have an increased number of respiratory tract infections (ear infections, sinusitis, bronchitis, and pneumonia). Because not all children develop in the same manner or at the same rate, it may be some years before A-T is properly diagnosed. Most children with A-T have stable neurologic symptoms for the first 4–5 years of life, but begin to show increasing problems in early school years. A-T is caused by a defect in the ATM gene,[2] which is responsible for managing the cell’s response to multiple forms of stress including double-strand breaks in DNA. In simple terms, the protein produced by the ATM gene recognizes that there is a break in DNA, recruits other proteins to fix the break, and stops the cell from making new DNA until the repair is complete.[3]

Answer 4

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver and brain.[1][2] It may lead to nosebleeds, acute and chronic digestive tract bleeding, and various problems due to the involvement of other organs. Treatment focuses on reducing bleeding from blood vessel lesions, and sometimes surgery or other targeted interventions to remove arteriovenous malformations in organs. Chronic bleeding often requires iron supplements and sometimes blood transfusions. HHT is transmitted in an autosomal dominant fashion, and occurs in one in 5,000 people.[1][2] The disease carries the names of Sir William Osler, Henri Jules Louis Marie Rendu and Frederick Parkes Weber, who described it in the late 19th and early 20th centuries.[3]

Answer 5

Bilateral small pupils  Opiates, metabolic encephalopathies, pontine lesions Unilteral dilated pupil  expanding lesion Bilateral dilated pupils  inadequate cerebral perfusion

Answer 6

100% - Normal, no complaints, no signs of disease 90% - Capable of normal activity, few symptoms or signs of disease 80% - Normal activity with some difficulty, some symptoms or signs 70% - Caring for self, not capable of normal activity or work 60% - Requiring some help, can take care of most personal requirements 50% - Requires help often, requires frequent medical care 40% - Disabled, requires special care and help 30% - Severely disabled, hospital admission indicated but no risk of death 20% - Very ill, requiring urgent admission, supportive measures or treatment 10% - Moribund, rapidly progressive fatal disease processes 0% - Dead

Answer 7

CT Head MRI Head MR Spectroscopy Functional MRI Tractography CT Chest/Abdomem

Answer 8

Tumours of neuroepithelial tissue Tumours of cranial and paraspinal nerves Tumours of the meninges Lymphomas and haematopoietic neoplasms Germ cell tumours Tumours of the sellar region Metastatic tumours

Answer 9

Astrocytic tumours - Pilocytic astrocytoma (grade I), Diffuse astrocytoma (grade II), Anaplastic astrocytoma (grade III), Glioblastoma (grade IV) Oligodendroglial tumours - Oligodendroglioma, Anaplastic oligodendroglioma Oligoastrocytic tumours

Answer 10

Pilocytic astrocytoma (grade I) - Children only, curable Diffuse astrocytoma (grade II) - Slowly growing, May transform to high grade, Prognosis 2 - 20 years Anaplastic astrocytoma/oligodendroglioma - prognosis 1 – 7 years Glioblastoma multiforme - Prognosis 3 months - 2 years

Answer 11

Tumour grade Age (young better, over 70 poor) Performance status (Karnofsky) Extent of surgical resection

Answer 12

Surgery Radiotherapy Stereotactic radiosurgery (SRS) Chemotherapy