Sometimes the birth of a child is overshadowed by a diagnosis made 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 thousand. For the first time, this syndrome was described by Sturge in 1879, and in 1922, Weber characterized the signs detected by X-ray.
In 1934, Krabbe suggested that, along with skin angiomas, the patient also suffers from angiomatosis of the cerebral membranes. We will try to find out what constitutes Sturge-Weber-Crabbe syndrome, the causes, 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 manifests itself with a large number of congenital angiomas of the facial region, glaucoma, epilepsy, oligophrenia, and other ophthalmic and neurological symptoms.
The disease is diagnosed with the help of 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 impaired embryonic development, as a result of which two germ layers are damaged: the ectoderm and mesoderm. It is from them that after some time 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 pregnant woman's body with nicotine, drugs, alcohol, various medications;
- intrauterine 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 can be different. The main one is angiomatosis of the skin of the face. This vascular stain 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 spot has a pink color, after which it acquires a red-cherry or bright red hue.
Angiomas can vary in appearance and prevalence and represent both small scattered foci and one large spot, merging together. Angiomatosis is able to cover the pharynx, nasal cavity and mouth. In most cases (70%), the proliferation of blood vessels is one-sided, and in 40%, changes in the face are usually combined with angiomas of the limbs and trunk. Other dermatological symptoms may occur: swelling of the soft tissues, congenital hemangiomas, nevi.
If Weber syndrome is suspected, neurology is manifested by damage to the cranial nerves, resulting in motor and sensory disorders on the side of the body opposite to the pathological focus.
In 85% of cases, children in the first year of life have encephalotrigeminal angiomatosis with convulsive syndrome, manifested by Jackson-type epileptic seizures, during which the limbs are seized with convulsions. Epilepsy often leads to oligophrenia, mental retardation, in some cases, idiocy, hydrocephalus can be observed.
From the side of the organs of vision, angiomas of the choroid of the eyes, hemianopsia, heterochromia of the iris, coloboma are observed. A third of patients are diagnosed with glaucoma, which causes clouding of the cornea.
Diagnosis of Sturge-Weber syndrome
Syndrome This pathology is diagnosed jointly by a neurologist, ophthalmologist, epileptologist and dermatologist.
The doctor, analyzing the history of the disease and the patient’s complaints, specifies the age when the first signs of the disease appeared. Using a neurological examination, skin sensitivity and muscle strength of the limbs of the body are assessed.
X-ray of the skull reveals areas of calcification of the cortex, which have double contours. Computed tomography of the brain can visualize much larger areas. Using MRI, areas of thinning of the cortex, degeneration and atrophy of cerebral matter are detected, excluding intracerebral tumor, cerebral cyst.
Electroencephalography determines the degree of bioelectric activity of the brain and establishes epi-activity. Ophthalmological examination consists of checking visual acuity, measuring intraocular pressure, performing perimetry, gonioscopy, ophthalmoscopy, AV scanning and ultrasound biometrics of the eye.
Quite often, a patient is referred for a consultation with medical genetics.
Treatment
If Weber's syndrome is diagnosed, its 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 medications: Valproate, Depakin, Keppra, Carbamazepine, Finlepsin, Topiramat;
- if there are disorders of a psychoemotional nature, prescribe psychotropic drugs;
- for the treatment of glaucoma, eye drops are used that reduce the secretion of intraocular fluid: Timolol, Azopt, Alfagan, Dorzolamide and others.
If angiomas located 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 a poor prognosis. The following complications may occur:
- loss of vision;
- vascular disorders leading to the development of a stroke;
- a pronounced defect on the face, which does not allow 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. At first, newborn children develop normally, but at the end of the first year of life, seizures of epilepsy occur . 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 deterioration of health.