title: Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.
abstract: BACKGROUND
  Elevated plasma homocysteine is a risk factor for arterial and venous thromboses in adults. Homocysteine is increased in cystathionine beta-synthase deficiency, a treatable amino acid metabolic disorder that may be missed on newborn screening placing children at risk of thrombosis and strokes.
  
  
  METHODS
  We present a 3-year-old girl with normal newborn screening for cystathionine beta-synthase deficiency who developed a symptomatic cerebral venous sinus thrombosis. Subsequent testing revealed marked hyperhomocystinemia and genetic testing confirmed cystathionine beta-synthase deficiency.
  
  
  CONCLUSIONS
  Current newborn screening is limited in its ability to detect cystathionine beta-synthase deficiency and although postanalytical interpretation may provide increased sensitivity, a normal newborn screening result should not replace the importance of physician surveillance.
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, Washington. Electronic address: iruhoy@uw.edu.
authors.forename: Ilene S
authors.initials: IS
authors.lastname: Ruhoy
authors.affiliation: Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
authors.forename: J Lawrence
authors.initials: JL
authors.lastname: Merritt
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, Washington.
authors.forename: Catherine
authors.initials: C
authors.lastname: Amlie-Lefond
mesh_terms: D020226:Cavernous Sinus Thrombosis / Q000150:complications* / Q000175:diagnosis; D002675:Child, Preschool; D005260:Female; D006712:Homocystinuria / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D020521:Stroke / Q000150:complications*
keywords: cerebral sinus venous thrombosis; cystathionine beta-synthase deficiency; hyperhomocysteinemia; newborn screening; stroke