ENTSEFALOTRIGEMINALNY ANGIOMATOSIS (synonym: the disease
of Sterdzha — F. P. Weber, a syndrome of Sterd-zha — F. P. Weber — Krabbe, an angiomatosis of Sterdzha — F. P. Weber — Krabbe — V. Dimitri, a neuroectodermal inborn dysplasia) — a disease from group of fakomatoz, to-rogo is the cornerstone the ektomezodermal-ny dysplasia which is shown an angiomatosis of skin, brain, an eyeglobe, and also sometimes an angiomatosis and malformations of internals.
For the first time E. and. it was in detail described in 1879 by the English ophthalmologist Ster jam (W. A. S turge) observing the patient with an angioma of face skin, glaucoma, convulsive attacks and a hemiparesis. In 1922. F. P. Weber found intracranial petrifikata on the roentgenogram in the patient with similar a wedge, manifestations. About similar rentgenol. finds told V. Dimitri in 1923, Krabbe (To. H. Krabbe, 1934) in detail described morfol. changes at this disease. In 1937 the entsefa-lotrigeminalny angiomatosis is included J. van der Hoeve in group of fakomatoz (see Fakomatoza).
In development E. and. the leading role, apparently, belongs to genetic factors that is confirmed by existence of family forms of a disease, and also high concordance (similarity) of disease at monozygotic twins. The mode of inheritance autosomal and dominant with incomplete penetrance, is possible autosomal and recessive. Diseases
are the cornerstone hereditarily the caused disturbances giving to e who a mesoderm to lny displaziya with development of an angiomatosis (see the Angiomatosis) skin, a brain, a retina and a horioidea, sometimes internals. Hemangiomas (see) brain angiomas of face skin are located preferential on a surface of big hemispheres in parietal and occipital shares, a thicket on the same party, as. Hemangiomas can extend in deep departments of a brain, occupying almost all hemisphere. At a diffusion angiomatosis of skin the expressed angiomatosis of a brain is not always observed. The angiomatosis of eyeglobes is characterized by a sclerosis and an atrophy of an iris, a ciliary body, amotio of a retina. Also the thickening of the choroid containing a large number of expanded blood vessels is observed. Sometimes angiomas and malformations of internals come to light.
The earliest a wedge, displays of a disease are hemangiomas of skin, to-rye can be observed since the birth or appear in the first months of life of the child. Hemangiomas of skin have various form and size, usually bright red or dark cherry color. They are located on a face on the one hand in a zone of an innervation of a trifacial (preferential first and second branches) more often, more rare happen bilateral; can be localized also on a trunk and extremities. The hypertrophy and hypostasis of soft tissues, mucous membranes are quite often noted. Besides, on skin of a trunk and extremities spots of coffee color and sites of hypopigmentation are found (see Vitiligo). To early manifestations E. and. also focal epileptic seizures belong (see Epilepsy). At children of the first years of life spasms of tonic character prevail. At children ^школьного age and at adults the focal motor, touch, vegetovistseralny and combined attacks are observed. Correlation between prevalence of an angiomatosis of skin and weight of epileptic attacks is not found (the last are caused by existence of intracranial angiomas and gemolikvoro-dynamic cerebral frustration). Lag of the child in mental development is characteristic. Decrease in intelligence can reach degree of a deficiency of intellect, is more rare than an idiocy. Correlation between extent of intellectual degradation and weight of epileptic attacks is observed. In the mezhpri-stupny period motive disinhibition and aggression of patients is noted. A hemiparesis and a hemiplegia quite often arises to or soon after emergence of convulsive attacks and is characterized by firmness. Hyperkinesias (see), dystonia of muscles, a locomotory and static ataxy (see), defeat V, VI, VII couples che - turnip and brain nerves, hypothalamic frustration are less often observed (vegetativnotrofichesky, endocrine and exchange, followed by premature sexual development). Degree of manifestation of all-brain and focal neurologic frustration is very variable.
At an ophthalmologic research find an angiomatosis of a conjunctiva, an iris of the eye, a ciliary body and a horioidea. Less often the retina and an optic disk are involved in process. The angiomatosis of a choroid of an eye progresses and leads to glaucoma, a blindness.
The disease progressing the central paralyzes gradually accrue, epileptic seizures become frequent, heavy mental disorders develop. Remissions can be observed, in time to-rykh epileptic seizures stop. In addition to described typical a wedge, forms of a disease meet abortal forms absence any one or group of symptoms (a hemiparesis, glaucoma, epileptic attacks, etc.).
Diagnosis E. and. the wedge, manifestations and data of inspection is based on identification of a complex characteristic. On roentgenograms of a skull reveal petrifikata and symptoms of intracranial hypertensia. At an elektroentsefalografichesky research find focal or diffusion changes of epileptic character. Cerebrospinal liquid is usually not changed. Differential diagnosis is carried out with inborn malformations of c. N of page (see the Brain), other diseases from group of fako-matoz (see).
Treatment E. and. symptomatic. Apply antiepileptic means (see), dehydrational therapy (see). Operational treatment of angiomas of skin and brain is carried out at the limited, isolated defeats. Sometimes at a hemangioma of a brain radiation therapy is shown. At glaucoma in some cases make enucleation of an eye (see).
Forecast adverse. During the progressing E. and. patients perish (death comes during the epileptic status from hypostasis of a brain). Inf. diseases and injuries can aggravate a current E. and. and quite often conduct by a lethal outcome in connection with development of subarakh-noidalno-parenchymatous hemorrhages.
Prevention provides medicogenetic consultation (see. Medicogenetic consultation) with the recommendation in some cases to limit a child-bearing in families with the registered cases of an entsefalotrige-minalny angiomatosis.
Bibliography: Arkhipov B. A., Skvortsov I. A. and Stone JI. N. Entsefalotrigeminalny
Shturge's angiomatosis — Weber (Kliniko-elektroneyro-miograficheskoye a research), Zhurn. neuropath. and psikhiat., t. 82, No. 5, page 38, 1982; Badalyan JI. Lake, etc. Hereditarily the caused angiomatoses with preferential defeat of a nervous system. Message 1. Shturge's disease — Weber, Pediatrics, No. 9, page 77, 1969; Volo
of tires B. X. and Chekanov Yu. H. Operation an iridotsikloretraktion at a syndrome of Sterdzha — Weber — Krabbe, Vestn. oftalm., No. 5, page 5, 1974; Kalinin JI. B. Neurologic syndromes at fakomatoza at children, Zhurn. neuropath. and psikhiat., t. 76, No. 10, page 1487, 1976; Kondrashin N. I. Clinic and treatment of hemangiomas at children, M., 1963; Problems of clinical neuropathology, under the editorship of JI. M. Shenderovich, page 58, Vladivostok, 1973; In an i k about f f G. e. and * Maladie de Sturge — Weber et glaucome, Bull. Soc. Opbtal. Fr., t. 80, p. 395, 1980; Czarnecki D. B. The Sturge — Weber syndrome, Arch. Derm., v. 117, p. 305, 1981; Feng Y. To. Yang Y. With * Sturge — Weber syndrome, Chin. med. J., y. 93, p. 697, 1980. L. V. Kalinina.