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Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A

Ke Shang1, Hui Li2, Xiang Luo1

  • 1Department of Neurology.

Medicine
|February 9, 2019
PubMed

Insights

Cerebral venous sinus thrombosis (CVST) in a young male was linked to a rare cystathionine-β-synthase (CBS) gene mutation causing hyperhomocysteinemia. Early screening for homocysteine, folic acid, and vitamin B12 is recommended for thrombophilic states.

Area of Science:

  • Genetics
  • Neurology
  • Thrombosis

Background:

  • Cerebral venous sinus thrombosis (CVST) risk factors include acquired and genetic causes, making precise diagnosis challenging.
  • Identifying specific genetic predispositions is crucial for effective patient management.

Observation:

  • A 14-year-old male presented with severe headache, vomiting, and transient leg weakness, indicative of potential CVST.
  • Diagnostic workup revealed CVST associated with hyperhomocysteinemia due to a cystathionine-β-synthase (CBS) gene mutation.

Findings:

  • The patient received persistent oral anticoagulant therapy, leading to symptom alleviation and improved MRV imaging over 1 year.
  • A novel CBS gene mutation (c.949A>G) was identified as the underlying cause of severe hyperhomocysteinemia.

Implications:

  • Routine screening for serum homocysteine, folic acid, and vitamin B12 levels is advised in patients with thrombophilic conditions.
  • Consideration of congenital genetic disorders is essential when extremely high homocysteine levels are detected.
Abstract

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