Sturge-Weber syndrome associated with other abnormalities: a medical record and literature review.

Mark McIntosh,'s picture
PubMed URL: 
http://www.ncbi.nlm.nih.gov/pubmed/16344352
Author: 
Dowling MM
Author List: 
Comi AM
Mehta P
Hatfield LA
Dowling MM
Journal: 
Arch Neurol
PubMed ID: 
16344352
Pagination: 
1924-7
Volume: 
62
Issue: 
12
Abstract: 
To develop hypotheses regarding the relationship between Sturge-Weber syndrome (SWS) and other abnormalities in a subset of patients.We retrospectively reviewed medical records in a group of 28 patients with SWS, noting the main features of SWS and accompanying unexpected abnormalities. We also conducted a literature review of abnormalities associated with SWS.Twenty-eight medical records of patients with SWS were reviewed. Of this number, we found 8 (29%, 2 female) patients who manifested other abnormalities. Our review of the literature uncovered 15 additional cases with associated abnormalities.We hypothesize that the abnormalities associated with SWS suggest testable insights regarding pathogenesis and that chromosome 17p1-p13 may be a candidate region for genes involved with SWS. We also propose that some patients with SWS may have disorders of cholesterol biosynthesis or carbohydrate glycosylation.
Published Date: 
December, 2005

Appointments & Referrals

Event Calendar

FIND A SPECIALIST

Publications

Read inspiring stories, news and updates about the Institute's patient care, research, special education, professional training, and community programs.

 

Resource Finder

 

A free resource that provides access to information and support for individuals and families living with developmental disabilities.