Mariana Sarov1, Adeline Not2, Hélène Ogier de Baulny3, Pascal Masnou2, Katayoun Vahedi4, Marie-Germaine Bousser5, Christian Denier6. 1. Neurology Department, Bicêtre Hospital Assistance Publique - Hôpitaux de Paris (AP-HP), France; Paris-Sud University, Le Kremlin Bicêtre, France. 2. Neurology Department, Bicêtre Hospital Assistance Publique - Hôpitaux de Paris (AP-HP), France. 3. Pediatry Department, Robert Debré Hospital, AP-HP, France. 4. Neurology Unit, Hôpital Privé d'Antony, France. 5. Neurology Department, Lariboisière Hospital, AP-HP, Paris, France. 6. 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.
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). OBSERVATION: 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. CONCLUSION: 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.
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). OBSERVATION: 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. CONCLUSION: 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.