title: Recurrent Hemorrhagic Venous Infarctions Caused by Thrombosis of a Pontine Developmental Venous Anomaly and Protein S Mutation.
abstract: A 34-year-old man presented with an acute onset of upbeat nystagmus, slurred speech, and limb and truncal ataxias. The patient had a history of limb ataxia and gait disturbance previously treated as brainstem encephalitis with corticosteroids 3 years previously. Brain magnetic resonance imaging showed pontine developmental venous anomaly (DVA) and hemorrhagic infarction within the drainage territory of the DVA. Three months later, the patient exhibited recurrent limb ataxia, double vision, and numbness of the left side of the body. The brain magnetic resonance imaging revealed recurrent hemorrhagic venous infarction within the same territory of the pontine DVA. Laboratory tests disclosed a hypercoagulable state owing to a decrease of protein S activity despite the normal antigen level. Genetic testing indicated that the patient was a homozygous carrier of protein S Tokushima. The patient's severe disability remained unchanged in spite of treatment with anticoagulation therapy using warfarin. We propose that further research on hereditary coagulopathy be carried out in patients with recurrent episodes of DVA-related infarction.
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Nakamura
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Kei-Ichiro
authors.initials: KI
authors.lastname: Takase
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Matsushita
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Yoshimura
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Ryo
authors.initials: R
authors.lastname: Yamasaki
authors.affiliation: Department of Neurological Therapeutics, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Murai
authors.affiliation: Department of Clinical Radiology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Kazufumi
authors.initials: K
authors.lastname: Kikuchi
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: kira@neuro.med.kyushu-u.ac.jp.
authors.forename: Jun-Ichi
authors.initials: JI
authors.lastname: Kira
mesh_terms: D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D001777:Blood Coagulation / Q000235:genetics; D001780:Blood Coagulation Tests; D020520:Brain Infarction / Q000000981:diagnostic imaging / Q000209:etiology*; D020785:Central Nervous System Vascular Malformations / Q000150:complications* / Q000000981:diagnostic imaging; D002533:Cerebral Angiography / Q000379:methods; D002550:Cerebral Veins / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004252:DNA Mutational Analysis; D006720:Homozygote; D006801:Humans; D020300:Intracranial Hemorrhages / Q000000981:diagnostic imaging / Q000209:etiology*; D020767:Intracranial Thrombosis / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology*; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D011149:Pons / Q000098:blood supply*; D017293:Protein S / Q000235:genetics*; D018455:Protein S Deficiency / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D012008:Recurrence; D016896:Treatment Outcome; D020246:Venous Thrombosis / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology*; D014859:Warfarin / Q000627:therapeutic use
chemical_list: D000925:Anticoagulants; D017293:Protein S; C083863:protein S Tokushima; D014859:Warfarin
keywords: Recurrent cerebral venous infarction; developmental venous anomaly; hemorrhagic cerebral venous infarction; protein S Tokushima; protein S deficiency