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

Anne M. Comi, Paulomi Mehta, Laura A. Hatfield, Michael M. Dowling

Research output: Contribution to journalReview article

18 Scopus citations

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 languageEnglish (US)
Pages (from-to)1924-1927
Number of pages4
JournalArchives of neurology
Volume62
Issue number12
DOIs
StatePublished - Dec 1 2005

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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