homocystinuria/cefalàlgia

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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

A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report.

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BACKGROUND Homocystinuria is a hereditary disease caused by a defect in the enzymes involved in metabolizing methionine. Homocystinuria can influence many systems and may be mistaken for other diseases, including Moyamoya disease. Here, we report the case of a 10-year-old male patient with a

[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

Mendelian and mitochondrial disorders associated with stroke.

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Several hereditary disorders induce angiopathy in the intracranial cerebrovasculature and thus cause ischemic strokes. MELAS is a maternally inherited mitochondrial disorder that produces stroke-like events. Sickle cell disease, which is the result of a single base pair substitution, is a major

[Paroxystic vasomotor skin manifestations (author's transl)].

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Paroxystic vasomotor skin manifestations are provoked by various etiologies. Widespread or generalized vasomotor skin manifestations may be induced by a physiological reaction (emotinal flushing), by a drug (vasodilator drugs, antabuse, antidiabetic, sulfonamides), by a discharge of histamine

Superior sagittal sinus thrombosis.

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Seven cases of superior sagittal sinus thrombosis seen at Royal Prince Alfred Hospital over the 10 year period 1979 to 1989 have been reviewed. Diagnosis was confirmed by angiography, CT scan or autopsy. The average age was 33 years (16 to 47 years). Five of the patients were female and 2 male. On

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