Hippel-Lindau disease (BHL) is a hereditary disease in which many tumors form in the body: hemangioblastomas (tumors of the nervous system) of the cerebellum and retina; angiomas (vascular tumors) of the spinal cord; cysts (cavitary formations filled with fluid) in the pancreas, kidneys, testicles, liver; pheochromocytomas (tumors from the adrenal medulla) in the adrenal glands and other organs. The type of inheritance is autosomal dominant, that is, if one of the parents has a disease, the probability of having a sick child is from 50 to 100%.
Signs of cerebellar pathology: unsteady gait - a person sways from side to side when walking; lack of coordination of movements - active movements are clumsy, when performing precise actions, a person often misses; tremor (trembling) of the limbs; nystagmus - rhythmic oscillation of the eyeballs from side to side with a large amplitude of swing.
Read MoreSigns of increased intracranial pressure (appear due to a violation of the outflow of cerebrospinal fluid from the abdominal systems of the brain, that is, cerebrospinal fluid that provides nutrition and metabolism of the brain): diffuse headache; nausea, vomiting; general weakness, fatigue. Decreased visual acuity up to its complete loss - with the development of a vascular tumor of the retina.
Read MoreSigns of the development of tumors in other organs: bouts of feeling hot in the body and heart palpitations with the development of pheochromocytoma (tumors from the adrenal medulla); swelling on the arms, legs and face, as well as blood in the urine with kidney tumors; infertility and pain in the testicles in the presence of tumors in the testicles; diarrhea (diarrhea), dry mouth and thirst in pancreatic tumors.
Read MoreGenetic defect in the third chromosome (gene 3p25-26): the product of this gene, the so-called Hippel-Lindau protein, inhibits tumor growth. With its deficiency, uncontrolled tumor growth is observed in different localizations. A neurologist will help in the treatment of the disease.
Mission
Analysis of complaints and anamnesis of the disease: at what age did complaints of unsteady gait, headaches and decreased visual acuity appear; whether someone in the family had similar complaints; wereDo you have a family history of cancer? Neurological examination: assessment of the function of the cerebellum (the presence of unsteady gait, uncoordinated movements).
Read MoreCounseling
Examination of the fundus - it is possible to identify: a tumor formation (retinal hemangioma); signs of increased intracranial pressure (blurring of the boundaries of the optic nerve head, pallor of the disk). Blood test: in the presence of tumors in the pancreas, an increase in blood glucose levels is possible; in the presence of pheochromocytoma (a tumor from the adrenal medulla), the content of catecholamines, which are produced in the medulla of the brain, is increased in the blood.
Read MoreCT (computed tomography) and MRI (magnetic resonance imaging) of the head: allow you to study the structure of the brain in layers and detect tumors in the cerebellum and signs of increased intracranial pressure. Ultrasound examination of organs that can be affected in Hippel-Lindau disease (kidneys, pancreas, testicles, liver).
Read MoreStudy of the family tree: with the help of Albuterol conversation with the patient and his relatives. Information about the presence of such complaints in relatives is important, as well as the age of development of the first symptoms and the degree of relationship (close, distant). Genetic research: performed on the patient and family members in order to search for a genetic defect that is inherited. It is also possible to consult a neurosurgeon, geneticist, ophthalmologist.
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Surgical treatment: if possible, the entire mass of the tumor in the cerebellum and in other organs is removed; in the presence of retinal tumors, they are removed with the help of cold (cryolysis). Also used are drugs that have an auxiliary value: nootropics (drugs that improve nutrition and brain function); hypoglycemic drugs for high blood glucose levels.
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