title: Homocystinuria with transverse sinus thrombosis.
abstract: A case of cerebral venous thrombosis caused by undiagnosed homocystinuria is 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 pathology, although not frequent, is more common than previously thought. Among the different etiologies, undiagnosed homocystinuria is not routinely considered. We report a case of venous thrombosis of the left transverse cerebral 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.
authors.affiliation: Institute of Clinical Pediatrics, University of Siena, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Buoni
authors.forename: M
authors.initials: M
authors.lastname: Molinelli
authors.forename: A
authors.initials: A
authors.lastname: Mariottini
authors.forename: C
authors.initials: C
authors.lastname: Rango
authors.forename: S
authors.initials: S
authors.lastname: Medaglini
authors.forename: S
authors.initials: S
authors.lastname: Pieri
authors.forename: M
authors.initials: M
authors.lastname: Strambi
authors.forename: A
authors.initials: A
authors.lastname: Fois
mesh_terms: D002648:Child; D003392:Cranial Sinuses / Q000473:pathology; D003937:Diagnosis, Differential; D004828:Epilepsies, Partial / Q000175:diagnosis; D005260:Female; D006712:Homocystinuria / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination; D012851:Sinus Thrombosis, Intracranial / Q000175:diagnosis*