Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
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Epidemiology
rare congenital vascular disorder
Pathology
- triad of unilateral vascular malformations (pure form)
- capillary malformation in the distribution of the trigeminal nerve (nevus flammeus, port-wine stain)
- vascular malformations in the choroid, often with secondary glaucoma
- vascular malformations of the leptomeninges with superficial calcifications in the brain result often with neurologic signs
Genetics
sporadic occurence, not inheritable
Clinical manifestations
- unilateral occurence
- port-wine stain* occurs in distribution of the trigeminal nerve, generally middle (maxillary nerve) & superior branches (ophthalmic nerve)
- present at birth
- manifestations which may be present
- contralateral hemiparesis
- muscular hemiatrophy
- epilepsy (seizures)
- mental retardation
- glaucoma
- ocular palsy
- mucosal involvement of mouth & conjunctiva
- headaches
* image[6]
Diagnostic procedures
- tonometry: intraocular pressure may be elevated
Radiology
- skull films show calcified angiomas or localized linear calcifications along cerebral convolutions
- CT neuroimaging
- magnetic resonance imaging
- unilateral cerebral atrophy with leptomeningeal enhancement along unilateral cerebral convexity (image[6]
Differential diagnosis
Management
- treatment is symptomatic
- laser treatment may be usefil to lighten &/or remove port wine stains
- anticonvulsant(s) for seizures
- surgery &/or eyedrops for glaucoma
- prognosis: not fatal
More general terms
Additional terms
References
- ↑ Color Atlas and Synopsis of Clinical Dermatology, Common and Serious Diseases, 3rd ed, Fitzpatrick et al, McGraw Hill, NY, 1997, pg 151
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 175
- ↑ NEJM Knowledge+ Question of the Week. Jan 10, 2017 http://knowledgeplus.nejm.org/question-of-week/4789/
- ↑ Sudarsanam A, Ardern-Holmes SL. Sturge-Weber syndrome: from the past to the present. Eur J Paediatr Neurol 2014 May; 18:257 PMID: https://www.ncbi.nlm.nih.gov/pubmed/24275166
- ↑ Wikipedia: Sturge-Weber syndrom https://en.wikipedia.org/wiki/Sturge%E2%80%93Weber_syndrome
- ↑ 6.0 6.1 6.2 Desai S, Glasier S Images in Clinical Medicine: Sturge-Weber Syndrome N Engl J Med 2017; 377:e11. August 31, 2017 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28854093 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMicm1700538
- ↑ NINDS Sturge-Weber Syndrome Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Sturge-Weber-Syndrome-Information-Page
Patient information
Sturge-Weber syndrome patient information