Sturge–Weber syndrome or Sturge–Weber–Krabbe disease, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and. Sturge-Weber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterised by facial port wine stains and pial angiomas. It is part of a wide. Combined Sturge-Weber-Dimitri and Klippel-Trénaunay-Weber .. Liaras, H.: Un cas de syndrome de Klippel-Trénaunay avec angiomatose osseuse localisée.

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Sfurge in to make a comment Sign in to your personal account. Congenital disorders of eye, ear, face and neck Congenital disorders of nervous system Genodermatoses Rare syndromes Syndromes affecting the skin Syndromes affecting the nervous system Syndromes with mental retardation. Studies do not support the widely held belief that seizure frequency early in life in patients who have SWS is a prognostic indicator.

Anticonvulsant medications may be used to control seizures.

Type 2 involvement includes a facial angioma port wine stain with a possibility of glaucoma developing. Support Center Support Center. Read it at Google Books – Find it at Amazon. EwenMD, and Anne M.

Information regarding patient demographics were obtained at each EEG and clinic visit and analyzed. Unlike other neurocutaneous disorders phakomatosesSturge-Weber occurs sporadically i. Gammel 4 reported the case of a boy with a port wine nevus of the face associated with. Retrieved 8 May Due to the high prevalence of epilepsy in children with SWS, the majority of patients will have an EEG d, even at a young age. Contact Help Who are we? Create a free personal account to make a comment, download free article PDFs, sign up for alerts and more.


Normally, only one side of the brain is affected. Laser treatment, usually started stjrge infancy, reduces the progression of the PWS and allows partial, or in rare cases, complete, clearance.

The haemangioma present on the surface of the brain is in the vast majority of cases on the same side as the birth mark and gradually results in calcification of the underlying brain and atrophy of the affected region.

Although we did not see an evolution fe the 10 children with repeated EEGs, this number may sfurge too small to replicate the findings from Chao Chao et al, Health care resources for this disease Expert centres Diagnostic tests 10 Patient organisations 65 Orphan drug s 0. Open in a webeg window. Sujansky E, Conradi S. It is part of a wide spectrum of possible phenotypes included in the craniofacial arteriovenous metameric syndrome CAMS.

The mean age at EEG was 2. If you want to subscribe to this journal, see our rates You can purchase this item in Pay Per View: References Andriola M, Stolfi J. Sign in to save your search Sign in to your personal account. Surprisingly, the evolution of the EEG did not necessarily indicate that these children were having worsening neurologic function or seizure control.

The diagnosis is usually obvious on account of a congenital facial cutaneous hemangioma also known as port wine stain or facial naevus flammeus.

New England Journal of Medicine.

EEG Evolution in Sturge-Weber Syndrome

Skull x-rays were historically useful and capable of identifying the gyriform calcification of the subcortical white matter although they no longer play a significant role in the diagnosis or management of this condition. The blood vessel formations associated with SWS start in the fetal stage. Case 13 Case Journal of Neurology and Psychopathology. Prognosis The prognosis depends on the severity of the epileptic crises which may lead to variable degrees of psychomotor regression and intellectual disability.


Orphanet: Angiomatose de Sturge Weber Krabbe

The mean age for patients with an EEG score of 0—1 was 3. Create a free personal account to download free article PDFs, sign up for alerts, and more. It is caused by a somatic activating mutation occurring in the GNAQ gene. Only comments written in English can be processed. Approximately a third of patients have choroidal or scleral angiomatous involvement, which may be complicated with retinal detachment, buphthalmos or glaucoma 1.

This page was last edited on 12 Augustat This type is the most common. Therapy with eye drops is used to decrease pressure in the eye.

Sturge–Weber syndrome

Normally, this network goes away in the ninth week of development. Get free access to newly published articles. Comi, Kennedy Krieger Institute. Trans Clin Soc London. Support Radiopaedia and see fewer ads.

Physiotherapy is required for muscular weakness and functional impairments. This score was obtained at clinic visit and is a composite of seizure frequency, hemiparesis, cognition, and vision subscores. Footnotes None of the authors have any conflicts of interest to disclose. Encephalotrigeminal angiomatosis Sturge-Weber disease: There may also be muscle weakness on the side of the body opposite the birthmark.