Sometimes the birth of a child overshadows the diagnosis made by doctors - "Sturge-Weber-Crabbe syndrome". This is a rare congenital angiomatous lesion of the eyes, skin and cerebral membranes. This condition occurs in 1 in 100,000 people. This syndrome was first described by Sturge in 1879, and in 1922 Weber characterized the signs revealed by X-rays.
Krabbe in 1934 suggested that along with angiomas of the skin, the patient also suffers from angiomatosis of the cerebral membranes. Let's try to find out what the Sturge-Weber-Crabbe syndrome is, the causes, the symptoms of this pathology.
Features of the disease
This syndrome is a congenital angiomatosis, i.e. excessive proliferation of blood vessels. Pathology affects the central nervous system, organs of vision, skin. Weber's syndrome is manifested by a large number of congenital angiomas of the facial region, glaucoma, epilepsy, mental retardation, and other ophthalmological and neurological symptoms.
The disease is diagnosed using X-ray of the skull, MRI or CT of cerebral structures, measurement of intraocular pressure, ophthalmoscopy, ultrasound of the eye, gonioscopy. Treatment consists of antiepileptic and symptomatic therapy, and glaucoma is eliminated conservatively and surgically. In most cases, the prognosis is poor.
Causes of occurrence
Weber's syndrome occurs due to a violation of embryonic development, as a result of which two germ layers are damaged: the ectoderm and mesoderm. It is from them that after a while the nervous system, skin, blood vessels and internal organs of the child begin to develop.
The reasons for this failure may be as follows:
- intoxication of the body of a pregnant woman with nicotine, drugs, alcohol, various medications;
- fetal infections;
- dysmetabolic disorders in the body of the expectant mother.
Symptoms
If a person is diagnosed with Weber's syndrome, the symptoms of this pathology may be different. The main one is angiomatosis of the skin of the face. This vascular spot in all patients is congenital, and over time it begins to increase in size. Most often located in the cheekbones and under the eyes, and when pressed, it begins to turn pale. At the very beginning, the stain has a pink color, after which it acquires a red-cherry or bright red hue.
Angiomas can vary in appearance and prevalence and aresmall scattered foci, and one large spot, merging together. Angiomatosis is able to cover the pharynx, nasal cavity and mouth. In most cases (70%), the vascular proliferation is unilateral, and in 40% of the changes on the face are usually combined with angiomas of the extremities and trunk. Other dermatological symptoms may also occur: soft tissue edema, congenital hemangiomas, nevi.
If Weber's syndrome is suspected, neurology is manifested by damage to the cranial nerves, resulting in motor and sensory disorders on the opposite side of the body from the pathological focus.
In 85% of cases in children of the first year of life, encephalotrigeminal angiomatosis with convulsive syndrome is observed, manifested by epileptic seizures of the Jacksonian type, during which the limbs are covered with convulsions. Epilepsy often leads to oligophrenia, mental retardation, in some cases, idiocy, hydrocephalus can be observed.
On the part of the organs of vision, angiomas of the choroid, hemianopsia, heterochromia of the iris, colobomas are observed. A third of patients are diagnosed with glaucoma, which causes clouding of the cornea.
Diagnosis of Sturge-Weber Syndrome
The syndrome of this pathology is diagnosed jointly by a neurologist, an ophthalmologist, an epileptologist and a dermatologist.
The doctor, analyzing the history of the disease and the patient's complaints, specifies the age when the signs of the disease first appeared. Skin sensitivity assessed by neurological examinationand muscle strength of the limbs of the body.
X-ray of the skull reveals areas of calcification of the cortex with double contours. Computed tomography of the brain is able to visualize much larger areas. MRI reveals areas of cortical thinning, degeneration and atrophy of the cerebral substance, excluding intracerebral tumor, cerebral cyst.
Electroencephalography determines the degree of bioelectrical activity of the brain and establishes epiactivity. The ophthalmological examination consists of visual acuity testing, intraocular pressure measurement, perimetry, gonioscopy, ophthalmoscopy, AV scanning and ultrasound biometry of the eye.
Quite often a patient is referred for a consultation with a medical geneticist.
Treatment
If Weber's syndrome is diagnosed, treatment should be symptomatic only. This means that the patient is relieved of such manifestations of pathology that worsen his life, since there is currently no effective treatment.
Therapy is carried out as follows:
- to eliminate convulsive manifestations, the doctor prescribes special drugs: Valproate, Depakin, Keppra, Carbamazepine, Finlepsin, Topiramate;
- if psycho-emotional disorders are present, psychotropic drugs are prescribed;
- For the treatment of glaucoma, eye drops are used that reduce the secretion of intraocular fluid: Timolol, Azopt, Alphagan, Dorzolamide and others.
If angiomas in the cranial cavity seriously affect the functioning of the body, a surgical operation is performed to remove them.
Forecast
Sadly, a disease such as Weber's syndrome has a poor prognosis. The following complications may occur:
- vision loss;
- vascular disorders leading to stroke;
- a pronounced defect on the face, which does not allow one to adapt normally in society and significantly reduces self-esteem;
- epileptic seizures contribute to severe mental retardation.
There are no preventive measures to prevent the development of this disease, since the exact causes of the pathology have not yet been identified.
Conclusion
Thus, Weber's syndrome is a very dangerous congenital disease. Newborn children develop normally at first, but epileptic seizures occur at the end of the first year of life. Often there is a lag in the development of the limbs, and after a while mental retardation occurs. This disease is incurable, you can only take drugs that do not allow your he alth to deteriorate.
