Weber-Crabbe Syndrome: Causes, Symptoms and Features of Treatment

Sometimes the birth of a child overshadows the diagnosis diagnosed by doctors - "Sturge-Weber-Crabbe syndrome". This is a rare congenital angiomatous lesion of the eyes, skin and cerebral membranes. Such a disease occurs in one person per 100,000. For the first time this syndrome was described by Sturge in 1879, and in 1922 Weber characterized the signs revealed during the X-ray.

Crabbe in 1934 made the assumption that along with the angiomas of the skin, the patient suffers from angiomatosis of the cerebral membranes. We will 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, the organs of vision, the skin. Weber syndrome shows a large number of congenital angiomas of the facial region, glaucoma, epilepsy, oligophrenia, other ophthalmological and neurologic symptoms.

Diagnosis of the disease using radiography 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 in a conservative and surgical way. In most cases, the forecast is unfavorable.

Causes

Weber's syndrome arises from a violation of embryonic development, as a result of which two embryonic leaflets are damaged : ectoderm and mesoderm. It is from them after a while that the nervous system, skin, vessels and internal organs of the child begin to develop.

The reasons for this failure can be the following:

• Intoxication of an organism of a pregnant woman with nicotine, drugs, alcohol, various medicines;
• Intrauterine infections;
• Dismetabolic disorders in the body of a future mother.

Symptoms

If a person is diagnosed with Weber's syndrome, the symptoms of this pathology can be different. The main one is angiomatosis of the facial skin. This vascular spot in all patients is congenital, and with time it begins to increase in size. Most often located in the area of the cheekbones and under the eyes, and when pressing begins to turn pale. At the very beginning the stain has a pink color, after which it acquires a red-cherry or bright red color.

Angiomas can differ in appearance and distribution and represent both small scattered foci and one large spot, merging into one. Angiomatosis is able to cover the pharynx, the nasal cavity and the mouth. In most cases (70%), vascular expansion is one-sided, and in 40%, changes in the face are usually combined with angiomas of the extremities and trunk. There may be other dermatological symptoms: swelling of soft tissues, congenital hemangiomas, nevi.

If there is a suspicion of Weber's syndrome, neurology is manifested by the defeat of the cranial nerves, resulting in motor and sensory disorders on the side of the body opposite from the pathological focus.

In 85% of cases, the children of the first year of life have encephalotrigeminal angiomatosis with convulsive syndrome, manifested by epileptic attacks of Jacksonian type, during which the limbs are cramped. Epilepsy often leads to oligophrenia, mental retardation, in some cases, idiocy, hydrocephalus may be observed.

On the part of the organs of vision, there are angiomas of the choroid of the eyes, hemianopsia, iris heterochromia, colobolics. A third of patients are diagnosed with glaucoma, which causes corneal opacity.

Diagnosis of Sturge-Weber Syndrome

Syndrome This pathology is diagnosed jointly by a neurologist, ophthalmologist, epileptologist and dermatologist.

The doctor, analyzing the anamnesis of the disease and the complaint of the patient, specifies the age when the symptoms of an illness first appeared. With the help of a neurological examination, the sensitivity of the skin and the muscular strength of the limbs of the body are evaluated.

Radiography of the skull reveals areas of calcification of the cortex having double contours. Computer tomography of the brain is capable of visualizing much larger zones. With the help of MRI, the areas of thinning of the cortex, degeneration and atrophy of the cerebral substance are revealed, excluding the intracerebral tumor, the cerebral cyst.

Electroencephalography determines the degree of bioelectric activity of the brain and establishes epiactivity. Ophthalmologic examination consists in checking of visual acuity, measurement of intraocular pressure, perimetry, gonioscopy, ophthalmoscopy, AV scan and ultrasonic biometry of the eye.

Quite often the patient is referred to a medical genetics consultation.

Treatment

If Weber's syndrome is diagnosed, treatment should be only symptomatic. This means that the patient is relieved of such manifestations of pathology that worsen his life, since effective treatment currently does not exist.

Therapy is carried out as follows:

• To eliminate convulsive manifestations, the doctor prescribes special preparations: Valproate, Depakin, Keppra, Karbamazepine, Finlepsin, Topiramat;
• If there are violations of a psychoemotional nature, psychotropic medications are prescribed;
• For the treatment of glaucoma use eye drops that reduce the secretion of the aqueous humor: "Timolol", "Azopt", "Alfagan", "Dorzolamide" and others.

If the angiomas in the cranial cavity seriously affect the functioning of the body, a surgical operation is performed to remove them.

Forecast

Sadly, a disease like Weber's syndrome has an unfavorable prognosis. The following complications may occur:

• Loss of vision;
• Cardiovascular disorders leading to stroke;
• A pronounced defect on the face that does not allow for normal adaptation in society and significantly reduces self-esteem;
• Epileptic seizures contribute to severe oligophrenia.

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 babies first develop normally, but at the end of the first year of life epileptic seizures occur. Often there is a lag in the development of the limbs, and after a while there is mental retardation. This disease is incurable, you can only take medications that do not allow you to worsen your health.