Sturge-Weber syndrome is a congenital angiomatosis affecting the skin, organs of vision and the central nervous system. It is manifested by multiple congenital angiomas of the facial region, persistent epileptic syndrome, glaucoma, oligophrenia, and other neurological and ophthalmological symptoms. During the diagnosis, X-ray of the skull, CT or MRI of cerebral structures, ophthalmoscopy, measurement of intraocular pressure, gonioscopy, ultrasound of the eye are performed. Treatment includes antiepileptic therapy, conservative and surgical treatment of glaucoma, symptomatic therapy. The prognosis is unfavorable in many cases.
General information
Sturge-Weber syndrome is a rare congenital angiomatous lesion of the cerebral membranes, skin and eyes. The prevalence is at the level of 1 case per 100 thousand population. For the first time , a patient with such a syndrome was described in 1879 . Sturge, then in 1922, Weber indicated the radiological signs detected in this syndrome. In 1934, Crabbe suggested that patients, along with skin angiomas, have angiomatosis of the cerebral membranes. In honor of these researchers, the disease was named Sturge-Weber-Crabbe syndrome. Due to the fact that facial angiomas are localized in the area of skin innervation by the 1st and 2nd branches of the trigeminal nerve, in neurology the disease is also known as encephalotrigeminal angiomatosis. Along with Recklinghausen’s neurofibromatosis, Louis-Bar syndrome, tuberous sclerosis, Hippel-Lindau disease, etc., Sturge-Weber syndrome is included in the group of phacomatoses — progressive neurocutaneous diseases.
Causes
Sturge-Weber syndrome occurs as a result of violations of embryonic development, leading to a failure of differentiation of ecto- and mesodermal leaflets. The majority of cases are sporadic occurrence of the syndrome, less often there is autosomal (not linked to sex) dominant or recessive inheritance with partial penetrance. It is believed that sporadic cases are caused by negative effects on the fetus in the embryonic period. Harmful factors can be exo- and endogenous intoxication of a pregnant woman, including nicotine, alcohol, drugs, various medications; intrauterine infections; dysmetabolic disorders in the expectant mother (for example, uncompensated diabetes mellitus or hyperthyroidism).
The morphological substrate of the disease is angiomatosis — the formation and growth of multiple vascular tumors (angiomas) located on the skin of the face and in the cerebral membranes. As a rule, angiomatosis of the membranes affects their convexital part, more often observed in the occipital and parietal zones. Usually, angiomatosis of the face and angiomatosis of the meninges have a homolateral arrangement, i.e. they are on the same side. However, the bilateral nature of the lesion is often noted. Degenerative processes develop in the cerebral tissues located under the angiomatous altered portion of the shell, atrophy and excessive growth of glia occur, calcifications are formed.
Symptoms
The most striking feature characterizing the Sturge-Weber syndrome is angiomatosis of the facial skin. In all patients, the vascular spot is congenital. Over time, it can increase in size. It is localized, as a rule, in the zygomatic and suborbital areas. Pales when pressed. At the beginning it has a pink color, then it acquires a bright red or red-cherry shade. The appearance and prevalence of angiomas are different, they can be small scattered foci or merge into one large spot, the so-called “flaming nevus”. Angiomatosis can cover the nasal cavity, pharynx, oral cavity. In 70% of cases of the syndrome, angiomatosis is unilateral. In 40% of the changes on the face are combined with angiomas of the trunk and limbs. Other dermatological symptoms are also possible: congenital hemangiomas, local soft tissue edema, nevi, hypo- and hyperpigmentation zones. According to some data, in 5% of cases, Sturge-Weber syndrome occurs without a characteristic “flaming nevus” on the face.
From 75% to 85% of cases of encephalotrigeminal angiomatosis occur with convulsive syndrome, debuting in the first year of life. Jackson-type epiprimes are characteristic, during which convulsions cover the extremities, contralateral (opposite) to the location of angiomatosis of the cerebral membranes. Epilepsy leads to mental retardation, oligophrenia, in some cases up to idiocy. Hydrocephalus, hemiparesis and hemiatrophy of the contralateral sheath angioma of the extremities may be observed.
On the part of the organ of vision, angiomas of the vascular membrane of the eye, heterochromia of the iris, hemianopsia, colobomas can be observed. Approximately one third of patients are diagnosed with glaucoma, which causes corneal opacity, and in some cases leads to the formation of hydrophthalmos. In some cases, Sturge-Weber syndrome is combined with facial skull dysplasia, manifested by facial asymmetry; in others, with congenital heart disease.
The pathognomonic triad of manifestations of the syndrome (“flaming nevus”, visual disturbances, neurological symptoms) is observed only in a fifth of patients. In other cases, the combination of symptoms varies significantly, and therefore 10 clinical forms of Sturge-Weber syndrome have been identified to date. Abortive variants of the syndrome are not uncommon, in which clinical symptoms are only partially and mildly expressed.
Diagnostics
It is possible to diagnose Sturge-Weber syndrome by a characteristic combination of symptoms: the presence of cutaneous facial angiomatosis, epiprimes and other neurological manifestations, as well as ophthalmological pathology (primarily glaucoma). The diagnostic search is carried out collectively by a neurologist, an epileptologist, an ophthalmologist and a dermatologist.
During the skull x-ray, zones of calcification of the cortex are found, having the form of double contours, as if encircling the convolutions in the area of cerebral lesion. A CT scan of the brain visualizes even more extensive calcification zones than radiography shows. MRI of the brain reveals areas of degeneration and atrophy of the cerebral substance, thinning of the cortex; allows you to exclude other diseases (intracerebral tumor, brain abscess, cerebral cyst).
Electroencephalography makes it possible to determine the nature of the bioelectric activity of the brain and diagnose epi-activity. Ophthalmological examination consists of checking visual acuity, perimetry, measurement of intraocular pressure, ophthalmoscopy and gonioscopy (with corneal transparency preserved), ultrasound biometrics of the eye, AV scanning.
Treatment and prognosis
Currently, Sturge-Weber syndrome has no effective treatment. Therapy is aimed at relieving the main manifestations. Anticonvulsant therapy with valproates, carbamazepine, levetiracetam, topiramate is carried out.
Episindrome often turns out to be resistant to ongoing antiepileptic treatment, which requires switching from monotherapy to taking a combination of two drugs. As one of the methods of treatment, X-ray irradiation of the skull over the area affected by angiomatosis is used. According to the indications, neurosurgeons may consider the issue of surgical treatment of epilepsy.
Treatment of glaucoma consists in instillation of eye drops that reduce the secretion of intraocular fluid: brimonidine, timolol, dorzolamide, brinzolamide, etc. However, such conservative therapy is often ineffective. In such cases, ophthalmic surgeons perform surgical treatment of glaucoma: trabeculotomy or trabeculectomy.
Unfortunately, with a pronounced clinic, Sturge-Weber syndrome has an unfavorable prognosis. Uncupable epileptic syndrome leads to severe oligophrenia. Possible loss of vision, intracranial vascular disorders, leading to the likelihood of stroke.
