%0 Journal Article
%T Sturge-Weber syndrome associated with other abnormalities: a medical record and literature review.
%A Comi AM
%A Mehta P
%A Hatfield LA
%A Dowling MM
%J Arch Neurol
%V 62
%N 12
%D Dec 2005
%M 16344352
暂无%R 10.1001/archneur.62.12.1924
%X <B>OBJECTIVE: </B>To develop hypotheses regarding the relationship between Sturge-Weber syndrome (SWS) and other abnormalities in a subset of patients.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.