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The same age at the onset of the disease observed in several generations, uniformity of forms, localization of angiomatous growths and a combination of certain anomalies in the development of the skeleton, endocrine system, and internal organs serve as confirmation. The disease is inherited predominantly in an autosomal dominant manner.

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The pathological process of Hippel-Lindau disease is based on the development of capillary angiomas of the retina, in the future - the formation of cysts, arteriovenous aneurysms with secondary growth of glia. In the retina, already in the initial period of the disease, turbidity, expansion and tortuosity of blood vessels, mainly capillaries, are found.

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Angiomas develop most often in the equatorial part, and primarily in the capillary zone between the arterial and venous trunks. Later, arteries and veins become thickened, tortuous, dilated, growing capillaries form glomeruli of bright red color with yellow. shade, in which exudate then appears, hemorrhages. The progression of the process leads to retinal detachment (see the full body of knowledge), atrophy of Xenical nerve (see the full body of knowledge). Histologically, in the protoplasm of tumor cells between the strands of capillaries, cholesterol surrounded by lipid drops (the so-called pseudoxanthoma cells) is found. Angiomas, angioreticulomas, cystic formations, various anomalies of the ventricles and membranes are found in the brain.

With the development of angioreticulum with multifocal growth, multiple cysts and cavities are noted, and hemorrhages often occur. A variety of congenital anomalies in the development of internal organs are found: in the cardiovascular system - coarctation of Xenical pills (see the full body of knowledge), congenital heart defects (see the full body of knowledge Congenital heart defects); polycystic kidney disease, pancreas, liver. There are also pheochromocytomas (see the complete body of knowledge), hypernephromas (see the full body of knowledge Adrenal glands, tumors).

The classical triad of Hippel-Lindau disease are the above-mentioned vascular tumors and anomalies in the development of the retina, brain and spinal cord, and internal organs.

However, the formation of tumor tissue in the body usually occurs unevenly. Incomplete forms of the disease are more common, when in some cases angiomatosis of the retina predominates, in others the picture of intracranial angioreticuloma comes to the fore (see full body of knowledge). Members of the same family have a variety of combinations of Gippel's symptoms - Lindau's disease. It begins in the period from. 10 to 30 years old. Early signs are often ophthalmic 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. In the peripheral part of the retina, often in the lower segment, spherical reddish elevations are visible. They are the capillary angiomas described above.

  • Reactive gliosis develops, a sharp expansion of blood vessels, exudation, dystrophic changes and hemorrhages in the retina.
  • In the third stage, exudation increases up to the formation of segmental retinal detachment.
  • In the fourth - terminal - stage, total retinal detachment occurs, a sharp degeneration of all structures of the eyeball.
  • Neurological symptoms in Hippel-Lindau disease. depend on the localization of the angioreticulum in one or another area of ​​the brain.
  • Most often, these tumors develop in the cerebellum, less often in the medulla oblongata, subcortical ganglia and in the cerebral hemispheres.
  • Occasionally they are found in the spinal cord and nerve roots.
  • The onset of neurological disorders in Hippel-Lindau disease is more often observed between the ages of 20 and 40 years.
  • When an angioreticuloma is located in the cerebellar hemisphere, cerebral symptoms appear early, in particular, periodically increasing, especially intram, a headache that may become permanent.

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Usually, the headache is diffuse, but it can be localized in the back of the head and radiate to the neck, back, sometimes localized in the forehead. Headache is often accompanied by vomiting. Stagnant discs of the optic nerves are revealed, sometimes a forced posture of the head. Against this background, a disorder of statics and gait gradually develops, a picture of cerebellar ataxia is formed (see the full body of knowledge.), Usually bilateral, but with a predominance on the side of the tumor.

With angioreticulomatosis of the medulla 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 of Hippel-Lindau disease is especially characterized by exacerbations (circulatory disorders in the tumor tissue, manifested by an increase in cerebral and focal symptoms) with subsequent remissions.

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 Gippel - Lindau disease with syringomyelia (see the complete body of knowledge), 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 millimeters of water column. Angiography (see the full body of knowledge), pneumoencephalography (see the full body of knowledge Encephalography), scanning (see the full body of knowledge) help to establish the localization, and sometimes the type of tumor.

Developmental anomalies and neoplasms of internal organs in Gippel-Lindau disease develop latently and often remain unrecognized. Hypernephromas and pheochromocytoma developing from the adrenal gland cause an increase in blood pressure. Gippel's course — Lindau's illness slowly progressing. 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.

Notice

A feature of the Gippel-Lindau disease in childhood is 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 the full body of orlistat), secondary glaucoma (see the full body of knowledge), hemophthalmos (see the full body of knowledge), cataracts (see the full body of knowledge).

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