Document Detail

Familial hyperhomocysteinemia-related cerebral venous sinus thrombosis and pulmonary embolism: a case report.
MedLine Citation:
PMID:  17685134     Owner:  NLM     Status:  MEDLINE    
Elevated plasma homocysteine levels are associated with an increased risk of deep vein thrombosis. Herein we report a case of familial hyperhomocysteinemia-related cerebral venous sinus thrombosis and pulmonary embolism in a 21-year-old man who presented with severe headache over bilateral frontal areas. Neurological examination revealed no evidence of focal neurological deficit. Chest CT showed pulmonary thromboembolism in bilateral basal lung fields and brain MRI disclosed right transverse and sigmoid venous sinus thrombosis. Routine immunological tests, coagulation factors and occult tumor screening were normal, as were vitamin B12 and folate levels. The DIC profile was negative, The only risk factor we were able to identify was an elevated serum homocysteine level, namely 46.23 microM/L. Hyperhomocysteinemia was also noted in the patient's asymptomatic elder brother (68.0 microM/L) and, to a lesser extent, in his parents (father 12.5 microM/L; mother 11.7 microM/L). In conclusion, the cause of cerebral venous thrombosis and pulmonary embolism in this young patient was most likely related to familial hyperhomocysteinemia, with the thromboembolic events precipitated by a preceding systemic infection. After anticoagulation therapy; the patient recovered completely without any residual neurological deficit.
Hsiu-Chu Shen; Yuk-Keung Lo; Jie-Yuan Li; Ping-Hong Lai
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta neurologica Taiwanica     Volume:  16     ISSN:  1028-768X     ISO Abbreviation:  Acta Neurol Taiwan     Publication Date:  2007 Jun 
Date Detail:
Created Date:  2007-08-09     Completed Date:  2007-08-23     Revised Date:  2008-05-28    
Medline Journal Info:
Nlm Unique ID:  9815355     Medline TA:  Acta Neurol Taiwan     Country:  China (Republic : 1949- )    
Other Details:
Languages:  eng     Pagination:  98-101     Citation Subset:  IM    
Neurology Section, Department of Medicine, Kaohsiung Veterans General Hospital, Taiwan.
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MeSH Terms
Hyperhomocysteinemia / complications*,  genetics*
Pulmonary Embolism / etiology*
Sinus Thrombosis, Intracranial / etiology*
Venous Thrombosis / etiology*

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