Sturge Weber Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q85.8 | Other phacomatoses, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Sturge-Weber syndrome , also known by the synonyms Sturge-Weber-Krabbe syndrome , meningofacial angiomatosis , encephalotrigeminal angiomatosis or angiomatosis encephalofacialis , is a congenital, progressive disease belonging to the group of neurocutaneous phakomatoses . It is characterized by hollow benign vascular tumors ( angiomas ) in the face area, in the area of the meninges , in the area of the ipsilateral soft meninges ( leptomeninx ) and the choroid of the eye ( choroidea ); often with the following eye symptoms.
Externally, the vascular malformations are usually recognizable by a capillary vascular malformation in the form of a mostly unilateral reddish to port wine-colored nevus flammeus ( fire mark ) on the face of affected children, this always includes the eyelid.
history
The syndrome was first described from a scientific point of view in 1879 by William A. Sturge (1850-1919). He reported about a young girl with a nevus flammeus on the face, neck and upper body, an enlarged eye ( buphthalmus ) on the same side , epileptic seizures and hemiparesis ( hemiparesis ). Frederick Parkes Weber (1863–1962) was able to demonstrate intracranial calcifications (calcifications within the skull ) in 1922 by means of X-ray examinations .
Frequency and cause
The syndrome is rather rare and occurs with a frequency of about 1: 20,000 to 1: 50,000 in live births. It has long been suspected as the cause of a somatic mutation, eventually in a DNA sequencing - study could be confirmed. In 23 of 26 American patients (88%) of a somatic was found in the examined biopsies mosaic - mutation with replacement of one base pair ( single nucleotide polymorphism : p.Arg183Gln c.548G → A, on chromosome 9q21) in the gene GNAQ, the protein of the Gα q encodes, a protein of the q class of the G protein α subunits, which is used for intracellular signaling from G protein-coupled receptors to other effector proteins. The arginine at site 138 is conserved in all twenty human G-protein α subunits. It is located in the GTP binding pocket and plays an important role in GTP hydrolysis . The mutation reduces the GTPase activity and increases the GTP signal activity.
The same activating somatic mutation in GNAQ gene was also found in 92% of the skin biopsies of non-syndromic wine stains . Similar GNAQ mutations were also found in blue nevi and nevus ota . If melanocytic nevi are found in the same place as a fire mark, it is a phakomatosis pigmentovascularis , which was originally described in association with Sturge-Weber syndrome.
As it is a somatic mutation, conspicuous familial clusters have not been described.
Symptoms
The classic picture of the syndrome is determined by vascular malformations of the skin and the brain (involvement of the choroid and meninges). The severity of the resulting symptoms can vary greatly, but in most cases is characterized by neurological and ophthalmological features; About 45 out of 100 affected children develop epileptic fits ( Blitz-Nick-Salaam fits ) and glaucoma .
Most children are clearly delayed in development. The anatomical vascular malformations usually appear on the skin and meninges through a nevus flammeus in the facial area of the forehead and eyelids .
The changes in the area of the meninges often lead to epileptic seizures that are comparatively difficult to treat as early as the first year after birth (frequent, for example, West syndrome ). Brain atrophy , accompanied by developmental delays and even cognitive impairment due to cerebral circulatory disorders due to calcification of the angiomas, can occur. Many affected people have repeated migraine-like headaches.
Paralysis of the body ( hemiparesis ) often occurs in childhood, with the risk of underdevelopment or reduced growth ( hypotrophy ) of the affected extremity (s).
Eye diseases (e.g. glaucoma ) can occur, as can neurologically induced visual field defects .
diagnosis
The angiomas on the face are already present at birth and change in size in proportion to the growth of the child. They are usually easy to recognize by their reddish color. Fading is also described as a discoloration in dark red-violet tones. They can also stand out structurally from the skin.
The x-ray of the skull shows a garland-shaped double contouring of the vascular calcifications in the parietoccipital region. The computed tomogram shows the loss of tissue in the brain (brain atrophy ). To clarify the presence of vascular malformations in the area of the soft meninges, magnetic resonance imaging with contrast media can be performed; occasionally, however, such changes do not show until after the first year of life.
The presence and, if possible, a classification of epilepsy is determined by measuring the electrical activity in the brain using an EEG .
Ophthalmological examinations are advisable, as diseases of the eye that require treatment are more common. Described glaucoma , choroidal hemangiomas and expansion and tortuosity of the vessels of the conjunctiva ( conjunctiva ), the iris ( Iris ) and the retina ( retina ). Usually, eye symptoms can be seen on the side of the angioma on the face.
The differential diagnosis that come Klippel-Trenaunay Syndrome and Ruvalcaba-Myhre-Smith syndrome in question.
therapy
Methods for the causal healing treatment of Sturge-Weber syndrome are not yet known. Therapy therefore consists in treating the symptoms ; For example, regular eye checks (at least one check per year is recommended).
The most important therapeutic intervention with a view to the development prognosis of the child is the treatment of epilepsy : depending on the origin of the cramps, the drug setting is the procedure of choice or an epilepsy surgery can be carried out.
The colored nevus flammeus, which is cosmetically perceived as more or less disturbing, can largely be treated with minimal scarring by special laser procedures in usually several sessions, although complete disappearance is usually not achieved. The lighter the discoloration, the more satisfactory the therapeutic success; therefore, treatment should be considered in childhood, before it turns out to be a dark tint. If necessary, psychotherapeutic help should be sought to prevent mental disorders due to the psychological stress caused by the facial angioma .
Physiotherapy measures ( physiotherapy and occupational therapy ) are often necessary to support physical development .
forecast
The estimation of the prognosis has to be done individually. It is related to epilepsy, on which the severity of the neurological deficits and the cognitive development possibilities depend to a great extent . The range of development (physical as well as cognitive) ranges from regular development to severe disabilities of the child.
literature
- WA Sturge: A case of partial epilepsy, apparently due to lesion of one of the vasomotor centers of brain. In: Trans Clin Soc Lond. 12 (1879), pp. 162-167.
- FP Weber: Right-sided hemi-hypertrophy resulting from right-sided congenital spastic hemiplegia, with a morbid condition of the left side of the brain, revealed by radiograms. In: Journal of Neurology and Psychopathology. London 3 (1922), pp. 134-139.
- John B. Bodensteiner, ES Roach: Sturge-Weber Syndrome. Sturge-Weber Foundation, Mt. Freedom, NJ 1999, ISBN 0-9670484-0-0 .
Individual evidence
- ↑ Matthew D. Shirley, Hao Tang, Carol J. Gallione, Joseph D. Baugher, Laurence P. Frelin, Bernard Cohen, Paula E. North, Douglas A. Marchuk, Anne M. Comi, Jonathan Pevsner: Sturge – Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ . New England Journal of Medicine 2013; Volume 368, Issue 21 of May 23, 2013, pages 1971-1979; doi : 10.1056 / NEJMoa1213507 .
