Abstract
Objective: To develop hypotheses regarding the relationship between Sturge-Weber syndrome (SWS) and other abnormalities in a subset of patients. Design: 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.
Original language | English (US) |
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Pages (from-to) | 1924-1927 |
Number of pages | 4 |
Journal | Archives of neurology |
Volume | 62 |
Issue number | 12 |
DOIs | |
State | Published - Dec 2005 |
ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology