GIPPELYA-LINDAU DISEASE (E. Hippel, is mute. ophthalmologist, 1867 — 1939; And. V. Lindau, Swede, pathologist, 1892 — 1958; synonym: multiple angioretikulematoz, retinotserebrovistseralny angiomatosis, family angiomatosis) — the disease which is characterized by development of angiomatous, angioretikulematozny and cystous educations in a retina of eyes, the central nervous system and internals. Treats group fakomatoz (see).
Ophthalmolum. the symptomatology was for the first time described by Panas (Ph. Panas, 1879) and Remy (A. Remy, 1892), and then in details Gippely in 1895, 1903, 1904. After the classical researches of Lindau in 1926 — 1927 who proved systemacity of this disease and described cerebral disturbances, G. — L. the form entered medicine as independent nozol. The disease meets rather seldom.
The etiology and a pathogeny
the Disease is hereditary. S. N. Davidenkov (1958), I. S. Babchin (1962), Shokeyr (Shokeir, 1970) and others consider that angiomas of a retina, a brain and a hypernephroma have uniform onkol, genesis. The Progrediyentnost, a combination of an angiomatosis to tumoral cellular structure, family character — proofs of the uniform nature of a disease. Due to the frequency of family forms it is necessary to speak not about hereditary predisposition, and about genetically determined disease with quite resistant penetrance of a gene and with insignificant influence of other genotypic factors and the environment. As confirmation serves the identical age observed in several generations by the beginning of a disease, uniformity of forms, localizations of angiomatous growths and a combination of certain anomalies of a skeletogeny, endocrine system, internals. The disease is inherited preferential on autosomal dominantly type.
In a basis patol, G.'s process — L. development of capillary angiomas of a retina of an eye, further — formation of cysts, arteriovenous aneurisms with secondary growth of a glia lies. In a retina already in an initial stage of a disease find opacification, expansion and crimpiness of vessels, preferential capillaries. Angiomas develop most often in the equatorial part, and first of all in a zone of capillaries between arterial and venous trunks. After an artery and a vein become reinforced, gyrose, expanded, the expanding capillaries form balls of bright red color with a yellow shade in which then exudate, hemorrhages appears. Progressing of process conducts to to amotio of a retina (see), atrophies optic nerve (see). Histologically in protoplasm of tumor cells between tyazha of capillaries find the cholesterol surrounded with lipidic drops (so-called psevdoksantomny cells). Find in a brain angiomas, angioretikulema, cystous formations, various anomalies of ventricles, covers. At development angioretikuly with multifocal growth multiple cysts and cavities are noted, quite often there are hemorrhages. Various kongenitalny anomalies of development of internals are found: cardiovascular system — coarctation of an aorta (see), inborn heart diseases (see. Heart diseases inborn ); polycystosis of kidneys, pancreas, liver. Meet also pheochromocytomas (see), hypernephromas (see. Adrenal glands, tumors ).
A classical triad of G. — L. the listed above vascular tumors and anomalies of development of a retina of an eye, head and spinal cord, internals are. However formation of tumoral fabric in an organism usually happens unevenly. Incomplete forms of a disease when in one cases the angiomatosis of a retina prevails meet more often, in others the picture intracranial is put in the forefront angioretikulema (see).
A clinical picture
various combinations of symptoms of G. — L.b occur At members of one family. It begins during from 10 to 30 years. Precursory symptoms often happen Ophthalmolum. the frustration which are shown the progressing decrease in sight and changes on an eyeground. Then symptoms of damage of a brain join. At an angiomatosis of a retina a peculiar picture of an eyeground is observed. In a peripheral part of a retina, it is frequent in the lower segment, spherical reddish eminences are visible. They also represent the capillary angiomas described above. From an optic disk several large looped feed vessels approach them. Angiomas can be single and multiple, develop on one or both eyes. Both eyes are surprised in 36 — 50%. During an angiomatosis of a retina distinguish four stages. In an initial stage of an angioma develop in the place of an anastomosis of several expanded arterial and venous branches, have the small sizes, tissue of a retina is rather kept. In the second stage the size of angiomas becomes more and they press in a vitreous. The reactive gliosis, sharp vasodilatation, exudation, dystrophic changes and hemorrhages in a retina develops. In the third stage exudation accrues up to formation of segmented amotio of a retina. In the fourth — terminal — stages there comes total amotio of a retina, sharp dystrophy of all structures of an eyeglobe.
Nevrol, symptoms at G. — L. depend on localization angioretikuly in this or that area of a brain. Most often these tumors develop in a cerebellum, is more rare in a myelencephalon, subcrustal gangliya and in big cerebral hemispheres. Occasionally they meet in a spinal cord and nervous roots. The beginning nevrol, frustration at G. — L. it is more often observed aged from 20 up to 40 years. At an arrangement of an angioretikulema in a hemisphere of a cerebellum early there are all-brain symptoms, in particular periodically amplifying, especially in the mornings, the headache, edges can become a constant. Usually the headache happens diffuse, but can be localized in a nape and give to a neck, a back, is sometimes localized in a forehead. The headache often is followed by vomiting. Congestive disks of optic nerves, sometimes a forced pose of the head come to light. On this background frustration of a statics and gait gradually develops, the picture of cerebellar forms ataxy (see), usually bilateral, but with dominance on the party of a tumor.
At an angioretikulematoza of a myelencephalon precursory focal symptoms are vomiting, a hiccups, a dysphagy, cordial and respiratory frustration that tie IX and X pairs of cranial nerves with involvement in process of kernels. Later the ataxy, depending not only from defeat of zadnemedialny sites of a cerebellum, but also from kernels of back cords joins. The disease develops for a number of years. All-brain symptoms appear late.
At supratentorial localization of an angioretikulematoz the first there are all-brain symptoms, but they proceed rather softly. Headaches arise attacks, reminding migraine. Epileptic seizures, sometimes cortical type are observed. To a current of this form G. — - L. aggravations (the circulatory disturbance in tumoral fabric which are shown strengthening of all-brain and focal symptoms) with the subsequent remissions are especially inherent.
Angioretikulema of a spinal cord can cause radicular pains, loss of tendon jerks and disorder of deep sensitivity (result of back localization of a tumor in the vertebral channel). Sometimes there comes the picture of cross spinal defeat. G.'s combination — L meets. with myelosyringosis (see), followed by emergence of the corresponding symptom complex. In cerebrospinal liquid find moderate proteinaceous and cellular dissociation; pressure can be increased to 220, in some cases to 330 mm w.g. Angiography (see), a pneumoencephalography (see. Encephalography ), scanning (see) promote establishment of localization, and sometimes and like a tumor.
Anomalies of development and a new growth of internals at G. — L. develop it is hidden and often remain not distinguished. The hypernephromas developing from an adrenal gland and a pheochromocytoma cause increase in the ABP.
G.'s current — L. slowly progressing. Remissions are sometimes observed. The disease which began at children's age flows rather favorably, can pass into malignant at the age of 35 — 40 years and later. At localization angioretikuly in big cerebral hemispheres, in a cerebellum a progrediyentnost of a disease irrespective of age extremely bystry. Feature of a current of G. — L. at children's age — emergence of symptoms of defeat of a nervous system against the background of available Ophthalmolum. changes. In some cases the disease becomes complicated iridocyclitis (see), secondary glaucoma (see), hemophthalmia (see), cataract (see).
the Diagnosis in early stages thanks to a characteristic oftalmoskopichesky picture in combination with nevrol, and somatic symptoms does not represent difficulties. In late stages in the presence of considerable exudation the disease needs to be differentiated with Coates's retinitis (see. Retinopathy ), sometimes — retinoblastoma (see) that can be solved by means of identification of symptoms of the combined damage of eyes and a nervous system, and also with tumors of a nervous system and internals.
the radiotheraphy Applied earlier, X-ray radiation, electrolysis, the perforating diatermopunktion with a diathermy in most cases did not give sufficient effect. With introduction to ophthalmology of a method of photocoagulation (see. Laser ) there were messages on favorable action of xenon and laser radiations on angiomatous educations, especially in early stages of process. It allows to consider photocoagulation method of the choice. Treatment of an angioretikulematoz of a head and spinal cord surgical. In some cases radiation therapy is applied. Along with it according to indications anticonvulsant, dehydrational, recovery and fortifying treatment is carried out.
the Forecast depends on a form of a disease, in some cases adverse. In the absence of treatment process progresses, leading to death of an eyeglobe, a rupture of angiomas, aneurisms with the subsequent hemorrhage in a brain. Timely surgical intervention eliminates brain frustration.
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L. V. Kalinina, E. S. Liebman.