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

Ilene S Ruhoy1, J Lawrence Merritt2, Catherine Amlie-Lefond1

  • 1Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, Washington.

Pediatric Neurology
|October 22, 2013
PubMed

Insights

Elevated homocysteine due to cystathionine beta-synthase deficiency can cause dangerous blood clots in children. Newborn screening may miss this disorder, highlighting the need for continued medical vigilance.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Elevated plasma homocysteine is a known risk factor for arterial and venous thromboses.
  • Cystathionine beta-synthase deficiency, an amino acid metabolic disorder, leads to hyperhomocysteinemia.
  • This condition may be missed by newborn screening, posing a risk of thrombosis and stroke in children.

Observation:

  • A 3-year-old girl presented with symptomatic cerebral venous sinus thrombosis.
  • Her newborn screening for cystathionine beta-synthase deficiency was normal.
  • Subsequent investigations revealed marked hyperhomocysteinemia.

Findings:

  • Genetic testing confirmed the diagnosis of cystathionine beta-synthase deficiency.
  • This case highlights a failure of newborn screening to detect the disorder.
  • The patient experienced a serious thrombotic event despite a normal newborn screen.

Implications:

  • Current newborn screening protocols for cystathionine beta-synthase deficiency have limitations.
  • Postanalytical interpretation may enhance detection sensitivity but is not foolproof.
  • Physician awareness and surveillance are crucial, even with normal newborn screening results, to prevent severe outcomes like stroke.
Abstract

Keywords:
cerebral sinus venous thrombosiscystathionine beta-synthase deficiencyhyperhomocysteinemianewborn screeningstroke

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