Recurrent Hemorrhagic Venous Infarctions Caused by Thrombosis of a Pontine Developmental Venous Anomaly and Protein S Mutation

• Published in: Journal of stroke and cerebrovascular diseases Vol. 25; no. 11; pp. e216 - e217
• Main Authors: Nakamura, Yuri, MD, Takase, Kei-ichiro, MD, PhD, Matsushita, Takuya, MD, PhD, Yoshimura, Satoshi, MD, PhD, Yamasaki, Ryo, MD, PhD, Murai, Hiroyuki, MD, PhD, Kikuchi, Kazufumi, MD, PhD, Kira, Jun-ichi, MD, PhD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.11.2016
• Subjects: Adult; Anticoagulants - therapeutic use; Blood Coagulation - genetics; Blood Coagulation Tests; Brain Infarction - diagnostic imaging; Brain Infarction - etiology; Cardiovascular; Central Nervous System Vascular Malformations - complications; Central Nervous System Vascular Malformations - diagnostic imaging; Cerebral Angiography - methods; Cerebral Veins - abnormalities; Cerebral Veins - diagnostic imaging; developmental venous anomaly; DNA Mutational Analysis; hemorrhagic cerebral venous infarction; Homozygote; Humans; Intracranial Hemorrhages - diagnostic imaging; Intracranial Hemorrhages - etiology; Intracranial Thrombosis - diagnostic imaging; Intracranial Thrombosis - drug therapy; Intracranial Thrombosis - etiology; Magnetic Resonance Angiography; Magnetic Resonance Imaging; Male; Mutation; Neurology; Pons - blood supply; Protein S - genetics; protein S deficiency; Protein S Deficiency - blood; Protein S Deficiency - complications; Protein S Deficiency - diagnosis; Protein S Deficiency - drug therapy; Protein S Deficiency - genetics; protein S Tokushima; Recurrence; Recurrent cerebral venous infarction; Treatment Outcome; Venous Thrombosis - diagnostic imaging; Venous Thrombosis - drug therapy; Venous Thrombosis - etiology; Warfarin - therapeutic use; Recurrent cerebral venous infarction; protein S deficiency; hemorrhagic cerebral venous infarction; protein S Tokushima; developmental venous anomaly
• ISSN: 1052-3057; 1532-8511
• DOI: 10.1016/j.jstrokecerebrovasdis.2016.08.040

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.