Von Hippel-Lindau syndrome is one of over 7000 known inherited diseases. It is an autosomal dominant disease that affects about 10% of the population.1 The history of VHL reaches back to 1864 when scattered reports of knots of blood vessels known as hemangioblastomas on the retina surfaced and were written up by opthamolagists. Eugene Von Hippel, a German opthamologist is credited with discovering the familial nature of the disease, however Swedish pathologist Arvid Lindau was the one who suggested that these hemangioblastomas are part of a larger "angiomatus [involving knots of blood vessels] lesion of the central nervous system." Additional reports of affected small families confermed Lindau's theory. In 1964, Melmon and Rosen summarized all knowlege of the disease and coined the name "Von Hippel-Lindau." The invention of ultrasound aided detection in the late 1970's, and by the mid 1980's, MRI was commonly used for detection of angiomas on the spine. In 1993, the VHL gene was located by researchers at the National Cancer Institute.
Patients with VHL suffer tumors known as angiomas (they are referred to as hemangioblastomas when discussing the retina, brain, or spinal chord and pheochromocytomas when discussing the adrenal glands) consisting of tiny knots of blood vessels. These angiomas can occur in the brain, spinal cord, retina, adrenal glands, kidney, pancreas, and very rarely in the epididymis is men and the fallopian tubes in women. Based on these manifestations, scientists have identified two types of VHL: 1) without pheochromocytoma 2) with pheochromocytoma. VHL type 2 has further been divided into two subcatagories: 2a) without pancreatic cysts 2b) with pancreatic cysts. VHL type 1 is the most common form of the disease. Scientists have also identified trends in race associated with manifestations of VHL: French families are most likely to have pancreatic cysts, German families are most likely to have pheochromocytomas, and Japanese families are more likely to have kidney tumors2.
When hemangioblastomas form in the retina, they start out very small and difficult to detect. They tend to grow around the equator of the retina (See Fig 1), far from the area of central vision. A very indepth opthamological examination is required to detect hemangioblastomastomas of the retina. Once discovered, there are two main options for treatment: laser surgery or cryotherapy (freezing). The goal of these treatments is to keep the hemangioblastomas from growing.
Hemangioblastomas in the brain and spinal cord can be a bit more dangerous. Early signs of a growth in these areas may include back pain, headaches, numbness, dizziness, and weakness or pain in the arms or legs.
The distribution of the type of brain and CNS tumors is shown in Figure 2.
Cancers arising from the lymph nodes or other sites of lymphoid tissue are broadly termed lymphomas. This group of diseases is divided into Hodgkin’s disease and non-Hodgkin’s lymphoma. In both conditions, there is a replacement of normal lymphatic tissue by collections of abnormal lymphoma cells.
The gene that is linked to the disease was first identified by Francesco Ramirez in 1991.
The genetic disorder retinitis pigmentosa is very serious. It is very complex, as it has multiple ways to be inherited. The symptoms are serious and handicap the victims for life. It is very prevalent in society, and there is no treatment. Future research into this debilitating disorder will offer hope to those affected by it.
A cerebral arteriovenous malformation (AVM) is an irregular connection of arteries and veins within the brain that has no definite cause; many do not experience symptoms (Mayo Clinic Staff, 2011). However, some patients experience headaches and seizures (Starke et al., 2009). The main risk of an AVM is hemorrhage, and patients with AVMs will always have some risk of hemorrhage (Ogilvy et al., 2001); According to Ogilvy et al (2001), more than 50% of AVMs lead to cerebral hemorrhage. The severity of the AVM will determine whether the condition should be treated and how it should be treated. Although treatment of AVMs in the brain attempts to maximize quality of life as well as eliminate cerebral hemorrhage risk, pre-treatment consideration of benefits and risks is essential.
Stargardt disease is a genetic disease that is inherited as an autosomal recessive trait. The disease is inherited when both parents are carriers of the recessive gene. Parents are typically only carriers and are, therefore, unaffected; however, each of their offspring has a 25 percent change of inheriting the two copies of the Stargardt gene needed to cause the disease. Researchers have found that about 5 percent of the human population carry gene mutations causing inherited retinal disea...
Meningioma represents about 34% of all primary brain tumors and occurs most frequently in middle-aged women (Brain Tumor Primer 49). Meningioma mostly occurs in older women, but a meningioma can still occur in males at any age, including childhood. Majority of meningioma are benign which are slow growing tumors that are localized and non-infiltrating (Brain Tumor Primer 49). A meningioma can be found at the base of the skull, and in the back, lower part of the brain (Brain Tumor Primer 49). The benign meningioma grows with distinct borders because it grows slowly, it can grow large before symptoms are noticeable (Brain Tumor Primer 50). Meningioma occurs less frequently in the spine (Brain Tumor Primer 50). Risk factors for meningioma include prior radiation which is exposure to the head, and a genetic disorder called neurofibromatosis type 2, which affects the nervous system and the skin (Brain Tumor Primer 50). However, meningioma also occurs in people who have no risk factors (Brain Tumor Primer 50). Symptoms for meningioma are possible depending on the location of the tumor (Brain Tumor Primer 50). The most common indications are headache, weakness on one side, seizures, personality, and behavioral changes, and confusion (Brain Tumor Primer 50). In order to evaluate the tumors location you have to use Neuro-imaging, which is scanning, with a CT or MRI (Brain Tumor Primer 50). In order to have full access to the meningioma, the neurosurgeon has to open the skull through a craniotomy. A craniotomy is a surgical operation in which a bone flap is temporarily removed from the skull to access the brain. The goal of surgery is to remove the meningioma completely; however complete removal can carry potential risks that may be signific...
The first, Littoral Cell Angiom (LCA) is a rare benign tumor that is usually discovered incidentally with sonography. It can arise from cells that line the red pulp and can manifest with splenomegaly. Treatment for this condition is most commonly a splenectomy. The second type of benign tumor that can be found on sonography is a splenic hemangioma. It is the most common benign tumor found within the spleen and usually does not exceed 2 millimeters. There are two types of Splenic Hemangioma that can be differentiated by their specific sonographic appearances. The first type is a cavernous hemangioma which can be determined by its mixed echogenic or hypoechoic structure and may show partial calcifications or cystic structures. The second type is a capillary hemangioma which can be determined by its hyperechoic lesion with defined margins. Splenic Hemangioma is generally not treated unless it is large or symptomatic, which in that case the patient would need a splenectomy. Hamartoma is another very rare benign tumor found incidentally during an ultrasound or during surgrey. It originates from the red pulp and is smaller than 3 cenitmeters in size. On sonography, a hamartoma may look like a hyperechoic solid mass and may show cystic or necrotic portions as well as small calcifications. Lastly, Splenic Cysts are the most frequent
The University of Texas MD Anderson Cancer Center states the disease is divided into two major types namely acute and chronic. The acute types of the disease are those that progress quickly and involve an overgrowth of very immature blood cells. This becomes life threatening because very few mature cells mean that the body loses its ability to prevent infection, anemia and bleeding disorders. A diagnosis of the acute type is given when the immature cells found account for 20% or more of the blood cells produced. The chronic type progress slowly and involves an overgrowth of mature blood cells. In contract to the acute type people affect by this type usually h...
Rozell-Shannon, Linda. "Facts About Vascular Birthmarks and Tumor." Vascular Birthmarks Foundation 1 Jan. 2004: 1-26. Print.
vessel is too small to see with the naked eye. At that point, it is
Von Hippel-Lindau (VHL) syndrome is a rare autosomal dominant genetic disorder that occurs in about 1 in every 35,000 births (Mahon, Suzanne M., 2012). The first reports on VHL syndrome were published in medical literature about a century ago where Treacher Collins and Eugene von Hippel were the first to describe families that had blood-vessel tumor development in the retina (Kaelin, William G., 2002). Later on Arvind Lindau, a neuropathologist, reported that these patients were also at high risk of developing tumors in the brain and spinal cord, which is now known as haemangioblastoma (Kaelin, William G., 2002). VHL syndrome is characterized by the formation tumors, both benign and malignant, and cysts that develop at
There is a very limited number in how this disease can be treated. I can be examined under anesthesia, specialized blood tests, CAT scans, and ultrasound (Finger, Pg. 1). Normally, a child would be examined if there were a past history of retinoblastoma from the parents. There would be a slim chance if a child shows up with the disease if the parents had ever had it. Normally, parents are the ones to notice the "white pupil" first (Ambramson, Ch6). The optometrist would recommend an ophthalmologist, who uses anesthesia to analyze the eye. He/she will then dilate the eyes to view the retina in search of tumors or abnormalities and where they are located. Sketches are then drawn or photographs using specialized equipment would be taken. Ultrasound would be used afterwards to determine the thickness and height if a tumor was found. Finally, a CAT scan is used to determine if the tumor is inside the eye or outside of their brain (Ambramson, Ch6). Once this is completed, the process of treatment would begin.
Von Willebrand Disease or VWD for short is the most common inherited bleeding disorder, affecting more than 1% of the world’s population. It was discovered by Dr. Erik Von Willebrand, a Finnish physician, who published his findings in 1926. Von Willebrands Disease is caused by the lack of Von Willebrand Factor or VWF in circulation in the body. Von Willebrand is described as:
This syndrome is inherited dominantly, thus there are families with multiple generations who have inherited one or more of these features. They exhibit pigment discrepancies such as alarmingly clear or light eyes, discolored eyes, white patches of hair, lack of pigment in the skin, and on non-physically visible note some degree of cochlear deafness. The disease was named after Petrus Johannes Waardenburg who first noted the correlation between those who had two different colored eyes and hearing problems. The breakthrough of which gene was effected was made when noticing mice with splotched coating are affected in the same gene that could cause Waardenburg Syndrome in humans. This gene is located in humans to chromosome 2, Pax3. Often it is because this gene is altered or deleted. It is unknown in which meiotic stage this first occurred, or if meiosis has effected the cause of this at