title: A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.
abstract: BACKGROUND
  Homocystinuria caused by cystathionine beta synthase (CBS) deficiency is most often diagnosed in childhood and has a variable expressivity. The most frequent abnormalities include intellectual disability, ectopia lentis, myopia, skeletal abnormalities or thromboembolism.
  
  
  OBJECTIVE
  To report a case of homocystinuria unraveled by cerebral venous thrombosis (CVT).
  
  
  METHODS
  A 17 year old female was admitted in our department of neurology for subacute headache and presented seizures in the emergency room. Cerebral imaging revealed CVT. Severe hyperhomocysteinemia was found and led to the diagnosis of homocystinuria due to composite heterozygous mutations in the CBS gene. Further investigations disclosed lens subluxation in association with myopia, mild scoliosis and osteopenia. The patient was treated by heparin followed by warfarin, vitamin therapy and dietary methionine restriction. Total homocysteine and methionine levels became normal in a few weeks and the patient had a complete recovery.
  
  
  CONCLUSIONS
  In patients with CVT, plasma total homocysteine measurement as part of the etiologic work up may reveal severe hyperhomocysteinemia due to CBS or remethylation defects that require specific treatment and management including perhaps protein-restricted diet and/or vitamin therapy for life.
authors.affiliation: Neurology Department, Bicêtre Hospital Assistance Publique - Hôpitaux de Paris (AP-HP), France; Paris-Sud University, Le Kremlin Bicêtre, France.
authors.forename: Mariana
authors.initials: M
authors.lastname: Sarov
authors.affiliation: Neurology Department, Bicêtre Hospital Assistance Publique - Hôpitaux de Paris (AP-HP), France.
authors.forename: Adeline
authors.initials: A
authors.lastname: Not
authors.affiliation: Pediatry Department, Robert Debré Hospital, AP-HP, France.
authors.forename: Hélène Ogier
authors.initials: HO
authors.lastname: de Baulny
authors.affiliation: Neurology Department, Bicêtre Hospital Assistance Publique - Hôpitaux de Paris (AP-HP), France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Masnou
authors.affiliation: Neurology Unit, Hôpital Privé d'Antony, France.
authors.forename: Katayoun
authors.initials: K
authors.lastname: Vahedi
authors.affiliation: Neurology Department, Lariboisière Hospital, AP-HP, Paris, France.
authors.forename: Marie-Germaine
authors.initials: MG
authors.lastname: Bousser
authors.affiliation: Neurology Department, Bicêtre Hospital Assistance Publique - Hôpitaux de Paris (AP-HP), France; Paris-Sud University, Le Kremlin Bicêtre, France; INSERM U788, Le Kremlin-Bicêtre, France. Electronic address: christian.denier@bct.aphp.fr.
authors.forename: Christian
authors.initials: C
authors.lastname: Denier
mesh_terms: D000293:Adolescent; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005260:Female; D006712:Homocystinuria / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D020767:Intracranial Thrombosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
chemical_list: D003541:Cystathionine beta-Synthase
keywords: Cerebral venous thrombosis; Cystathionine beta synthase (CBS); Hyperhomocysteinemia; Methionine; Thromboembolic; Vascular