Late diagnosis of homocystinuria in an adult after extensive cerebral venous thrombosis

• Published in: Practical neurology Vol. 18; no. 1; pp. 49 - 51
• Main Authors: Quintas, Sonia, Dotor-García Soto, Julio, Alonso-Cerezo, María Concepción, Carreras, Maria Teresa
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.02.2018
• Subjects: Anticoagulants; Health risk assessment; Lupus; Medical diagnosis; Mutation; United Kingdom > UK; Spain; marfan syndrome; homocystinuria; recessive inheritance; cerebral venous thrombosis
• ISSN: 1474-7758; 1474-7766; 1474-7766
• DOI: 10.1136/practneurol-2017-001795

A CT venogram confirmed an extensive deep cerebral venous thrombosis that included the right internal jugular vein, right sigmoid and transverse sinuses, superior sagittal sinus and distal segment of rectus sinus (figure 3). Cerebral venous thrombosis has many underlying triggers and/or predisposing risk factors, including some that are transient (for example, parameningeal infection or sepsis, pregnancy and puerperium, dehydration, mechanical precipitants, drugs such as oral contraceptives or hormonal replacement therapy and glucocorticoids) and/or those that are permanent (eg, inflammatory systemic diseases, cancer-related, genetic prothrombotic conditions, dural fistulae, thyroid disease, congenital heart disease). Drugs (oral contraceptives, hormonal replacement therapy, ciclosporin, intravenous immunoglobulins, erythropoietin, androgens, asparaginase, tamoxifen, glucocorticoids).