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 journalArticle

16 Citations (Scopus)

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 2005

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Sturge-Weber Syndrome
Medical Records
Literature Review
Syndrome
Glycosylation
Chromosomes
Cholesterol
Carbohydrates

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Sturge-Weber syndrome associated with other abnormalities : A medical record and literature review. / Comi, Anne M.; Mehta, Paulomi; Hatfield, Laura A.; Dowling, Michael M.

In: Archives of Neurology, Vol. 62, No. 12, 12.2005, p. 1924-1927.

Research output: Contribution to journalArticle

Comi, Anne M. ; Mehta, Paulomi ; Hatfield, Laura A. ; Dowling, Michael M. / Sturge-Weber syndrome associated with other abnormalities : A medical record and literature review. In: Archives of Neurology. 2005 ; Vol. 62, No. 12. pp. 1924-1927.
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