title: Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient.
abstract: 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 she was readmitted for increased frequency of headaches and was given a diagnosis of migraine. A subsequent MRI head scan was suggestive of longstanding venous sinus infarcts and neuroradiology review concluded that encephalitis had been the incorrect initial diagnosis. Subsequent investigations for an underlying cause of the two episodes of venous thrombosis revealed a total homocysteine level of >350 μmol/L (<15 μmol/L). An underlying diagnosis of homocystinuria secondary to cystathionine β-synthase deficiency was made although this metabolic condition is normally recognised in childhood. Treatment with pyridoxine and betaine normalised her homocysteine levels and she has had no further thrombotic event since.
authors.affiliation: QE Hospital Birmingham, Birmingham, UK.
authors.forename: Emily
authors.identifier: http://orcid.org/0000-0003-2349-2688
authors.initials: E
authors.lastname: Woods
authors.affiliation: QE Hospital Birmingham, Birmingham, UK.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Dawson
authors.affiliation: Department of Radiology, University of Birmingham, Birmingham, West Midlands, UK.
authors.forename: Latha
authors.initials: L
authors.lastname: Senthil
authors.affiliation: Department of Endocrinology, University Hospital of Birmingham, Birmingham, UK.|University of Birmingham, Institute of Metabolism and Systems Research, Birmingham, West Midlands, UK.
authors.forename: Tarekegn
authors.initials: T
authors.lastname: Geberhiwot
mesh_terms: D000328:Adult; D001622:Betaine / Q000627:therapeutic use; D002533:Cerebral Angiography; D000072226:Computed Tomography Angiography; D003951:Diagnostic Errors; D004401:Dysarthria / Q000209:etiology; D018792:Encephalitis, Viral / Q000175:diagnosis*; D005260:Female; D006261:Headache / Q000209:etiology; D006712:Homocystinuria / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D008082:Lipotropic Agents / Q000627:therapeutic use; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008881:Migraine Disorders / Q000175:diagnosis*; D010291:Paresis / Q000209:etiology; D010690:Phlebography; D011655:Pulmonary Embolism / Q000209:etiology; D011736:Pyridoxine / Q000627:therapeutic use; D012851:Sinus Thrombosis, Intracranial / Q000000981:diagnostic imaging* / Q000209:etiology; D014803:Vitamin B Complex / Q000627:therapeutic use
chemical_list: D008082:Lipotropic Agents; D014803:Vitamin B Complex; D001622:Betaine; D011736:Pyridoxine