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Members of the same family have a variety of combinations of symptoms G. L.b. It starts between the ages of 10 and 30. Ophthalmol are often early signs. disorders manifested by a progressive decrease in vision and changes in the fundus. Then the symptoms of brain damage join. With retinal angiomatosis, a peculiar picture of the fundus is observed.

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In the peripheral part of the retina, often in the lower segment, spherical reddish elevations are visible. They are the capillary angiomas described above. Several large loopy supply vessels approach them from the optic nerve head. Angiomas can be single or multiple, develop in one or both eyes.

Both eyes are affected in 36-50%. During angiomatosis of the retina, four stages are distinguished. In the initial stage, angiomas develop at the site of the anastomosis of clomid pills dilated arterial and venous branches, are small in size, and the retinal tissue is relatively preserved.

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With angioreticulomatosis of clomid pills oblongata, early focal signs are vomiting, hiccups, dysphagia, cardiac and respiratory disorders, which is associated with the involvement of nuclei IX and X pairs of cranial nerves in the process. Later, ataxia joins, depending not only on the defeat of the posteromedial sections of the cerebellum, but also on the nuclei of the posterior cords.

The disease develops over a number of years. Cerebral symptoms appear late. With supratentorial localization of angioreticulomatosis, cerebral symptoms appear first, but they proceed relatively mildly. Headaches come in attacks, resembling a migraine. There are epileptic seizures, sometimes cortical type. The course of this form G.--L. b. exacerbations (circulatory disorders in the tumor tissue, manifested by an increase in cerebral and focal symptoms) with subsequent remissions are especially characteristic.

Angioreticulomas of the spinal cord can cause radicular pain, loss of tendon reflexes and deep sensitivity disorders (the result of the posterior localization of the tumor in the spinal canal). Sometimes there is a picture of a transverse spinal lesion. There is a combination of G. L. b. with syringomyelia (see), accompanied by the appearance of the corresponding symptom complex. In cerebrospinal liquid find moderate proteinaceous and cellular dissociation; pressure can be increased to 220, in some cases up to 330 mm of water. Art. Angiography (see), pneumoencephalography (see. Encephalography), scanning (see) contribute to the establishment of localization, and sometimes the type of tumor.

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Anomalies of Clomiphene and new growths of internals at G. L. b. develop covertly and often remain unrecognized. Hypernephromas and pheochromocytoma developing from the adrenal gland cause an increase in blood pressure. The course of Hippel-Lindau disease is slowly progressive. Sometimes there are remissions. The disease, which began in childhood, flows relatively favorably, it can turn into a malignant one at the age of 35-40 years and later. With localization of angioreticulum in the cerebral hemispheres, in the cerebellum, the progression of the disease, regardless of age, is extremely fast.

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The peculiarity of the flow of G.-L. b. in childhood - the appearance of symptoms of damage to the nervous system against the background of existing ophthalmic changes. In some cases, the disease is complicated by iridocyclitis (see), secondary glaucoma (see), hemophthalmos (see), cataracts (see).

The diagnosis in early stages thanks to a characteristic oftalmoskopichesky picture in combination with nevrol, and somatic symptoms does not present difficulties. In the later stages, in the presence of significant exudation, the disease must be differentiated from Coats' retinitis (see Retinopathy), sometimes - retinoblastoma (see), which can be resolved by identifying symptoms of combined damage to the eyes and nervous system, as well as tumors of the nervous system and internal organs.

Previously used radiotherapy, X-ray exposure, electrolysis, perforating diathermopuncture with diathermy in most cases did not give a sufficient effect. With the introduction of the method of photocoagulation into ophthalmology (see Laser), there were reports of the beneficial effect of xenon and laser radiation on angiomatous formations, especially in the early stages of the process.

This allows us to consider photocoagulation as the method of choice. Surgical treatment of angioreticulomatosis of the brain and spinal cord. In some cases, radiation therapy is used. Along with this, according to indications, anticonvulsant, dehydration, restorative and restorative treatment is carried out.

The prognosis depends on the form of the disease, in some cases unfavorable. If untreated, the process progresses, leading to the death of the eyeball, rupture of angiomas, aneurysms, followed by cerebral hemorrhage. Timely surgical intervention eliminates brain disorders.

Hippel-Lindau disease is a hereditary multisystem disease characterized by the development of cysts and neoplasms in various organs. Disease for the first timee described by A.Z. Fuchs in 1882. In 1904, E. von Hippel published the results of histological studies of the eye of a patient with retinal hemangiomas.

Thanks to the works of these authors, the most frequently observed manifestations of the disease were presented in the literature. Other organs are affected much less frequently.

A little more than 20 years later, the neuropathologist A. Lindau (1926) reported on the results of morphological studies of the brain and abdominal organs of patients with retinal angiomatosis and for the first time suggested that there is a connection between lesions of the eyes and the central nervous system.

Epidemiology and genetic research. The disease is inherited in an autosomal dominant manner with incomplete penetrance. Sporadic cases account for about 20%. The gene responsible for the development of Hippel-Lindau disease is mapped on the 3rd chromosome in the interval 3p26-p25. The incidence of the disease in the population is approximately.

Systemic manifestations and diagnostic criteria. Angiomatosis of the retina is detected in approximately 55-70% of clomiphene with Hippel-Lindau disease, hemangioblastoma of the central nervous system - at least 60%, cysts of the kidneys and pancreas - in 33-54%, pheochromocytoma - in 7%. It has been established that the average age of patients at the time of the onset of retinal hemangioblastoma is about 18 years (ranges from 2.8 years to 67 years), hemangioblastoma of the central nervous system is 42 years (from 4 to 70 years), renal cell carcinoma is 43 years (from 31 years to 69 years) and pheochromocytoma - 25 years (from 10 to 56 years).

Visceral lesions may precede changes in the posterior segment of the eyes. G. Browne et al. (1997) reported on 8 patients with Hippel-Lindau disease from three generations of a large Irish family, in whom polycystic kidney disease was the only manifestation of the disease. The diagnosis in these patients was established by identification of a mutation at the 3p25-p26 locus in the chole DNA analysis. B.U. Bender et al. (1997) described two patients in whom Hippel-Lindau disease was verified using molecular genetic studies. The only manifestation of the disease in these patients was pheochromocytoma.

Ophthalmic manifestations. In most children, the disease is detected during examination for strabismus or dispensary examination. Early detection of changes in the fundus is also possible during a preventive examination of children whose parents or close relatives suffer from Hippel-Litzdau disease. Patients over 8 years of clomid usually complain of blurred vision or metamorphopsia. In the early stages of the disease, ophthalmoscopy can only reveal an aneurysm-like expansion of the vessel on the periphery of the retina. Late neoplasm looks like a small (about 0.3 DR in diameter) pink, slightly protruding tissue.

peripheral and/or macular retinal breaks, neovascular glaucoma. A case is described when a patient with a long-term (more than 17 years) existing angioma developed ossification of the structures of the posterior segment of the eye. clomiphene examined a 14-year-old girl with Hippel-Lindau disease, whose first manifestation of the disease was total exudative retinal detachment. B-sonography and CT showed no signs of retinal angioma. The diagnosis was confirmed by analysis of the family history and molecular genetic examination of the girl and 9 members of her family (a reading frame mutation was found in the 195th codon of the 3rd exon of the Hippel-Lindau disease gene).

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