Contents

Search

Sturge-Weber syndrome (encephalotrigeminal angiomatosis)

Epidemiology: rare congenital vascular disorder Pathology: - triad of unilateral vascular malformations (pure form) a) capillary malformation in the distribution of the trigeminal nerve (nevus flammeus, port-wine stain) b) vascular malformations in the choroid, often with secondary glaucoma c) vascular malformations of the leptomeninges with superficial calcifications in the brain result often with neurologic signs Genetics: sporadic occurence, not inheritable Clinical manifestations: 1) unilateral occurence 2) port-wine stain* occurs in distribution of the trigeminal nerve, generally middle (maxillary nerve) & superior branches (ophthalmic nerve) - present at birth 3) manifestations which may be present a) contralateral hemiparesis b) muscular hemiatrophy c) epilepsy (seizures) d) mental retardation e) glaucoma f) ocular palsy g) mucosal involvement of mouth & conjunctiva h) headaches * image [6] Special laboratory: - tonometry: intraocular pressure may be elevated Radiology: 1) skull films show calcified angiomas or localized linear calcifications along cerebral convolutions 2) CT neuroimaging 3) magnetic resonance imaging - unilateral cerebral atrophy with leptomeningeal enhancement along unilateral cerebral convexity (image [6] Differential diagnosis: - Klippel-Trenaunay-Weber syndrome Management: 1) treatment is symptomatic 2) laser treatment may be usefil to lighten &/or remove port wine stains 3) anticonvulsant(s) for seizures 4) surgery &/or eyedrops for glaucoma 5) prognosis: not fatal

Interactions

disease interactions

Related

nevus flammeus (port-wine stain)

General

capillary disease developmental disorder syndrome

Properties

PATHOLOGY: hemangioma

Database Correlations

OMIM 185300

References

  1. Color Atlas and Synopsis of Clinical Dermatology, Common and Serious Diseases, 3rd ed, Fitzpatrick et al, McGraw Hill, NY, 1997, pg 151
  2. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 175
  3. NEJM Knowledge+ Question of the Week. Jan 10, 2017 http://knowledgeplus.nejm.org/question-of-week/4789/
  4. Sudarsanam A, Ardern-Holmes SL. Sturge-Weber syndrome: from the past to the present. Eur J Paediatr Neurol 2014 May; 18:257 PMID: 24275166
  5. Wikipedia: Sturge-Weber syndrom https://en.wikipedia.org/wiki/Sturge%E2%80%93Weber_syndrome
  6. Desai S, Glasier S Images in Clinical Medicine: Sturge-Weber Syndrome N Engl J Med 2017; 377:e11. August 31, 2017 PMID: 28854093 http://www.nejm.org/doi/full/10.1056/NEJMicm1700538
  7. NINDS Sturge-Weber Syndrome Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Sturge-Weber-Syndrome-Information-Page