Sturge-Weber syndrome associated with other abnormalities: a medical record and literature review.
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.
Comi
Anne M
AM
Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. comi@kennedykrieger.org
Mehta
Paulomi
P
Hatfield
Laura A
LA
Dowling
Michael M
MM
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
D002241:Carbohydrates; D020703:ras GTPase-Activating Proteins; D002784:Cholesterol