Homocystinuria with transverse sinus thrombosis

A case of cerebral venous thrombosis caused by undiagnosed homocystinuria i s reported. The pitfalls regarding the diagnosis of a potentially medically treatable condition are discussed. Cerebral venous thrombosis in children has a variable type of onset and a multiplicity of causes. This type of pat hology, although not frequent, is more common than previously thought. Amon g the different etiologies, undiagnosed homocystinuria is not routinely con sidered. We report a case of venous thrombosis of the left transverse cereb ral sinus in a girl with drug-resistant partial epilepsy and homocystinuria . This diagnosis was considered and confirmed after the appearance of acute cerebral symptoms caused by venous thrombosis.