Sturge-Weber syndrome
Introduction
Introduction to Sturge-Weber Syndrome Intrinsic, also known as encephalotrigeminalangiomatosis, was first described by Schiremer. Later, Sturge and Weber successively reported in detail, hence the name Sturge-Weber syndrome, Sturge-Weber syndrome. basic knowledge The proportion of illness: 0.0035% Susceptible people: no special people Mode of infection: non-infectious Complications: epilepsy
Cause
The cause of Sturge-Weber syndrome
(1) Causes of the disease
Associated with vascular malformations caused by dysplasia.
(two) pathogenesis
The pathogenesis of glaucoma is not fully understood. Most scholars believe that glaucoma occurs due to abnormal iris corneal angle, such as scleral dysplasia, thickening of uveal trabecular meshwork, and peripheral iris stop on trabecular meshwork. Some people think that Sturge-Weber syndrome is caused by excessive secretion of aqueous humor and increased permeability of uveal blood vessels. Some pathological specimens suggest abnormalities in the keratoconus of the iris, similar to primary congenital glaucoma, which hinders the outflow and discharge of aqueous humor. Studies have shown that the increase in intraocular pressure in most cases is due to the increase in the smoothing coefficient of aqueous humor due to the increase in superficial scleral venous pressure. The increase in superficial scleral venous pressure is due to the high pressure state of the collector channels near the Schlemm tube. Infant eye pressure increased with eyeball expansion rate of about 70%. There is also a performance similar to the original open-angle glaucoma in young people and even in later years.
Prevention
Sturge-Weber Syndrome Prevention
Complication
Sturge-Weber syndrome complications Complications
Meningeal hemangioma, epilepsy, intranasal hemangioma, etc.
Symptom
Stitch-Weber syndrome symptoms common symptoms retinal detachment high intraocular pressure mental disorder calcified retinal edema intraocular pressure elevated hemianopia
1. Facial skin capillary hemangioma: Sturge-Weber syndrome The hemangioma in the facial skin is capillary hemangioma, mostly located in the dermis and subcutaneous tissue, varying in size, consisting of thin-walled, loosely arranged dilated capillaries. The area located in the first or second branch of the trigeminal nerve is often unilateral, and about 10% is bilateral. On one side, the midline of the face is used as a boundary. In some cases, the hemangioma spans the midline of the face, and the affected area is hypertrophied. The hemangioma is a port-wine stain that appears at birth and is light and unobtrusive at the beginning, and then becomes dark and distinct with age and remains for life. Sometimes the presence of dark melanin can blur the color of some patients' skin and make it difficult for doctors to recognize. The upper sacral area is almost always affected. A small number of patients also have hemangioma invasion in the tongue, ankle, lip, gums, cheeks or nasal cavity. Occasionally, individual cases, hemangioma only invade the eyelids and conjunctiva.
2. Hemangioma of the central nervous system: on the same side of the facial hemangioma, often accompanied by meningeal hemangioma, consisting of veins located under the subarachnoid expansion, often involving the occipital and temporal lobes of the brain. X-ray examination of the flat film (better by CT or magnetic resonance imaging) shows that the cerebral cortex under the blood vessels often has progressive calcification changes, which are coral-like. This calcification sign is more common in children after 1 year old. The central nervous system has been affected. Brain damage often manifests as epileptic seizures (80% of cases), cortical seizures or contralateral mild hemiplegia, and even hemiplegia and ipsilateral hemianopia. More than 60% of cases have varying degrees of mental disorder due to atrophy of the adjacent cerebral cortex.
Klippel-Trcnaunary-Weber syndrome is similar to this syndrome, and may be one of them. There are still vascular hemangiomas and varicose veins in the affected side of the trunk and limbs, and hypertrophy of bones and soft tissues.
3. Ocular manifestations of ocular tumor invasion are common, such as the retina, conjunctiva, superficial sclera, ciliary body and eyelids can be affected, the iris has a different color and hyperplasia.
(1) Choroidal hemangioma: About half of the patients have this sign, which is an isolated, orange-yellow, moderately bulging mass located at the posterior pole of the fundus. If the affected area is wide, the fundus is diffuse red, called "tomato cat-sup" fundus, and retinal cystic degeneration, retinal edema or secondary exudative retinal detachment can be seen on choroidal hemangioma. Fluorescence angiography showed abnormally strong fluorescence of the choroid with a large number of buckling and dilation of small blood vessels.
(2) Glaucoma: 30% of cases are accompanied by glaucoma. When an aneurysm involves the eyelid or conjunctiva, especially the upper eyelid, there is usually glaucoma in the ipsilateral eye. When the facial hemangioma is unilateral, glaucoma occurs mostly in the ipsilateral eye, but there are exceptions. The cutaneous hemangioma is bilateral, and the glaucoma can be unilateral or bilateral. Facial hemangioma with choroidal hemangioma, mostly with glaucoma. However, in patients with choroidal hemangioma without Sturge-Weber syndrome, glaucoma rarely occurs.
Most glaucoma has occurred in infancy, but it develops in childhood and adolescence. If it develops in the early stage, the eyeball will increase, and the performance will be similar to that of other congenital glaucoma. In the later stage, the cornea diameter remains normal. Most scholars believe that the glaucoma combined with Sturge-Weber syndrome has no significant difference between the anterior segment of the eye and the typical infant glaucoma. Usually, the appearance of the angle structure is normal. Even in the state of high intraocular pressure, such as compression of the jugular vein or intermittent compression of the eyeball with a corner mirror, the blood can be refluxed in the Schlemm tube, and the angle of the corner of the iris is seen to have more blood vessels at the root of the iris. The optic disc maintains normal color even in the case of long-term moderate intraocular pressure. Of course, if the intraocular pressure is not controlled, the final optic disc will also become pale. In the intraocular pressure measurement and intraocular pressure tracing, it can be seen that the pointer of the tonometer has a pulsation corresponding to the heart rate, which is caused by the intermittent blood circulation of the expanded vascular network.
Examine
Sturge-Weber syndrome check
No special laboratory tests.
X-ray, CT or magnetic resonance can confirm the calcification and brain atrophy changes in the cerebral hemangioma, and the electroencephalogram can be performed in the presence of seizures. B-ultrasound can be used to determine the diagnosis of hemangioma involving the choroid; attention should be paid when accompanied by glaucoma Monitor trends in intraocular pressure changes.
Diagnosis
Diagnosis of Sturge-Weber syndrome
According to the typical clinical manifestations, combined with the auxiliary examination is not difficult to diagnose.
Attention is distinguished from simple facial vasospasm and telangiectasia.
