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December 2005

Sturge-Weber Syndrome Associated With Other Abnormalities: A Medical Record and Literature Review

Author Affiliations

Author Affiliations: Departments of Neurology (Dr Comi and Mss Mehta and Hatfield) and Pediatrics (Dr Comi), The Johns Hopkins University School of Medicine, Baltimore, Md; and Department of Neurology, The University of Texas Southwestern Medical Center at Dallas (Dr Dowling). Dr Comi is now with the Kennedy Krieger Institute, Baltimore.

Arch Neurol. 2005;62(12):1924-1927. doi:10.1001/archneur.62.12.1924

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.

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