{Reference Type}: Journal Article
{Title}: Sturge-Weber syndrome associated with other abnormalities: a medical record and literature review.
{Author}: Comi AM;Mehta P;Hatfield LA;Dowling MM;
{Journal}: Arch Neurol
{Volume}: 62
{Issue}: 12
{Year}: Dec 2005
暂无{DOI}: 10.1001/archneur.62.12.1924
{Abstract}: OBJECTIVE: To develop hypotheses regarding the relationship between Sturge-Weber syndrome (SWS) and other abnormalities in a subset of patients.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.