Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke

Pediatr Neurol. 2014 Jan;50(1):108-11. doi: 10.1016/j.pediatrneurol.2013.08.021. Epub 2013 Oct 15.


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.

Patient: 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.

Keywords: cerebral sinus venous thrombosis; cystathionine beta-synthase deficiency; hyperhomocysteinemia; newborn screening; stroke.

Publication types

  • Case Reports

MeSH terms

  • Cavernous Sinus Thrombosis / complications*
  • Cavernous Sinus Thrombosis / diagnosis
  • Child, Preschool
  • Female
  • Homocystinuria / diagnosis
  • Homocystinuria / etiology*
  • Humans
  • Magnetic Resonance Angiography
  • Magnetic Resonance Imaging
  • Stroke / complications*