title: Acute quadriplegia in a young man secondary to prothrombin G20210A mutation.
abstract: METHODS
  We present the case of an 18-year-old man, previously healthy, who presented with acute quadriplegia and respiratory failure. Physical examination was compatible with a high cervical anterior spinal cord lesion.
  
  
  OBJECTIVE
  We plan to evaluate the cause of such a neurological presentation in a healthy young man.
  
  
  METHODS
  American University Medical Center, Beirut, Lebanon.
  
  
  METHODS
  The patient underwent routine blood hematological and chemistry work-up, hypercoagulable profile studies, genetic profile for thrombophelias, radiographic studies of the brain and cervical cord, cerebrospinal analysis and extensive electrophyisological studies.
  
  
  RESULTS
  Magnetic resonance imaging and magnetic resonance angiogram of the brain, carotid and intracranial vessels were normal. Cerebral angiography was normal. Magnetic resonance imaging of the cervical cord revealed lesion of the anterior segment of the cervical cord between C2 and C5 levels. Hypercoagulable profile studies were normal. Electrophysiological studies confirmed an isolated lesion of the descending cortico-spinal tracts. DNA analysis revealed the presence of a G20210A mutation-causing hyperprothrombinemia.
  
  
  CONCLUSIONS
  We conclude that a G20210A mutation causing-hyperprothrombinemia can cause anterior spinal artery thrombosis and anterior spinal cord infarction with the resultant neurological deficits in otherwise healthy patients.
authors: Department of Internal Medicine, Division of Neurology, American University Medical Center, Beirut, Lebanon. rs01@aub.edu.lb
authors: R
authors: R
authors: Sawaya
authors: Z
authors: Z
authors: Diken
authors: R
authors: R
authors: Mahfouz
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D011782:Quadriplegia / Q000235:genetics*; D011859:Radiography; D012131:Respiratory Insufficiency
chemical_list: D011516:Prothrombin