title: Sturge-Weber syndrome associated with other abnormalities: a medical record and literature review.
abstract: OBJECTIVE
  To develop hypotheses regarding the relationship between Sturge-Weber syndrome (SWS) and other abnormalities in a subset of patients.
  
  
  METHODS
  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.
authors.affiliation: Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. comi@kennedykrieger.org
authors.forename: Anne M
authors.initials: AM
authors.lastname: Comi
authors.forename: Paulomi
authors.initials: P
authors.lastname: Mehta
authors.forename: Laura A
authors.initials: LA
authors.lastname: Hatfield
authors.forename: Michael M
authors.initials: MM
authors.lastname: Dowling
mesh_terms: D000293:Adolescent; D000328:Adult; D002241:Carbohydrates / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000378:metabolism; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D000013:Congenital Abnormalities / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D012189:Retrospective Studies; D013341:Sturge-Weber Syndrome / Q000150:complications* / Q000235:genetics* / Q000378:metabolism; D020703:ras GTPase-Activating Proteins / Q000235:genetics
chemical_list: D002241:Carbohydrates; D020703:ras GTPase-Activating Proteins; D002784:Cholesterol