cystathionine/galvos skausmas

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

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Risk factors of cerebral venous sinus thrombosis (CVST) are usually divided into acquired risks (e.g., trauma and pregnancy) and genetic risks (inherited thrombophilia). It is essential but not easy to identify the exact one for each patient.A 14-year-old

A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.

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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

[Cerebral venous thrombosis and homocystinuria: case report].

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Homocystinuria presenting as cerebral venous thrombosis is not usual. We report on a 13-year-old boy who was admitted to the hospital due to severe headache, nausea, vomiting and fever (38 degrees C). The patient was Marfan like and presented left hemiparesis and meningeal irritation sings. He was

Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient.

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A 30-year-old woman presented with severe headache, dysarthria and right hemiparesis. She was treated for suspected viral encephalopathy and recovered over the following weeks although the headaches persisted. Two months later she was treated in-hospital for pulmonary embolism. The following year

Betaine anhydrous in homocystinuria: results from the RoCH registry.

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The Registry of Adult and Paediatric Patients Treated with Cystadane® - Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety of betaine anhydrous (Cystadane®) in the treatment of patients with inborn

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