Document Detail


Pathophysiology of Sturge-Weber syndrome.
MedLine Citation:
PMID:  13677575     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Sturge-Weber syndrome is a neurocutaneous disorder classically presenting with a facial port-wine stain, vascular eye abnormalities, and an ipsilateral occipital leptomeningeal angioma. Children with Sturge-Weber syndrome often develop progressive neurologic problems. Data on the pathophysiology of Sturge-Weber syndrome are briefly reviewed. The embryologic, genetic, and pathologic considerations are discussed, as are theories regarding the mechanisms of the degenerative brain changes. Sturge-Weber syndrome likely results from an early embryologic malformation of vascular development affecting the development of the nearby skin, eye, and brain structures. Studies suggest that complex molecular interactions contribute to the abnormal development and function of blood vessels in Sturge-Weber syndrome. Neurologic deterioration in Sturge-Weber syndrome is likely secondary to impaired blood flow to the brain and is worsened by the presence of seizures. Insights from related areas are discussed, and future research studies are suggested.
Authors:
Anne M Comi
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of child neurology     Volume:  18     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-09-17     Completed Date:  2003-11-21     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  509-16     Citation Subset:  IM    
Affiliation:
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. acomi@jhmi.edu
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MeSH Terms
Descriptor/Qualifier:
Blood Vessels / physiopathology
Cerebrovascular Circulation
Humans
Neurodegenerative Diseases / physiopathology
Seizures / physiopathology
Sturge-Weber Syndrome / embryology,  genetics,  pathology,  physiopathology*

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