Inherited protein C deficiency with acute ischemic stroke in a young adult: A case report

Fu Chi Yang, Chang Hung Hsu, Jiann Chyun Lin, Cheng Yu Chen, Jiunn Tay Lee

研究成果: 雜誌貢獻文章

5 引文 (Scopus)

摘要

Hereditary protein C deficiency is inherited primarily as an autosomal dominant trait with incomplete penetrance. Arterial thrombosis, especially of the intracranial arteries, due to this deficiency is relatively rare. A 31-year-old man was admitted to our department because of sudden onset of neurological symptoms. Magnetic resonance imaging of the brain disclosed an acute ischemic infarction of the area supplied by the left middle cerebral artery. Protein C antigen was 40.7% (77-129%) and protein C activity was 46.3% (70-140%). No other possible associated causes of stroke were present. A survey of his relatives for protein C deficiency showed this deficiency in his mother, brother, sister and nephews. Protein C concentrations should be determined in cases of ischemic stroke in all young patients with no other major risk factors. Once protein C deficiency is detected, a search for protein C deficiency in the patient?s relatives should be performed to prevent the occurrence of ischemic strokes.
原文英語
頁(從 - 到)601-604
頁數4
期刊Blood Coagulation and Fibrinolysis
19
發行號6
DOIs
出版狀態已發佈 - 九月 2008
對外發佈Yes

指紋

Protein C Deficiency
Young Adult
Protein C
Stroke
Siblings
Intracranial Thrombosis
Penetrance
Middle Cerebral Artery
Infarction
Arteries
Mothers
Magnetic Resonance Imaging
Antigens
Brain

ASJC Scopus subject areas

  • Hematology

引用此文

Inherited protein C deficiency with acute ischemic stroke in a young adult : A case report. / Yang, Fu Chi; Hsu, Chang Hung; Lin, Jiann Chyun; Chen, Cheng Yu; Lee, Jiunn Tay.

於: Blood Coagulation and Fibrinolysis, 卷 19, 編號 6, 09.2008, p. 601-604.

研究成果: 雜誌貢獻文章

Yang, Fu Chi ; Hsu, Chang Hung ; Lin, Jiann Chyun ; Chen, Cheng Yu ; Lee, Jiunn Tay. / Inherited protein C deficiency with acute ischemic stroke in a young adult : A case report. 於: Blood Coagulation and Fibrinolysis. 2008 ; 卷 19, 編號 6. 頁 601-604.
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abstract = "Hereditary protein C deficiency is inherited primarily as an autosomal dominant trait with incomplete penetrance. Arterial thrombosis, especially of the intracranial arteries, due to this deficiency is relatively rare. A 31-year-old man was admitted to our department because of sudden onset of neurological symptoms. Magnetic resonance imaging of the brain disclosed an acute ischemic infarction of the area supplied by the left middle cerebral artery. Protein C antigen was 40.7{\%} (77-129{\%}) and protein C activity was 46.3{\%} (70-140{\%}). No other possible associated causes of stroke were present. A survey of his relatives for protein C deficiency showed this deficiency in his mother, brother, sister and nephews. Protein C concentrations should be determined in cases of ischemic stroke in all young patients with no other major risk factors. Once protein C deficiency is detected, a search for protein C deficiency in the patient?s relatives should be performed to prevent the occurrence of ischemic strokes.",
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AU - Lee, Jiunn Tay

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N2 - Hereditary protein C deficiency is inherited primarily as an autosomal dominant trait with incomplete penetrance. Arterial thrombosis, especially of the intracranial arteries, due to this deficiency is relatively rare. A 31-year-old man was admitted to our department because of sudden onset of neurological symptoms. Magnetic resonance imaging of the brain disclosed an acute ischemic infarction of the area supplied by the left middle cerebral artery. Protein C antigen was 40.7% (77-129%) and protein C activity was 46.3% (70-140%). No other possible associated causes of stroke were present. A survey of his relatives for protein C deficiency showed this deficiency in his mother, brother, sister and nephews. Protein C concentrations should be determined in cases of ischemic stroke in all young patients with no other major risk factors. Once protein C deficiency is detected, a search for protein C deficiency in the patient?s relatives should be performed to prevent the occurrence of ischemic strokes.

AB - Hereditary protein C deficiency is inherited primarily as an autosomal dominant trait with incomplete penetrance. Arterial thrombosis, especially of the intracranial arteries, due to this deficiency is relatively rare. A 31-year-old man was admitted to our department because of sudden onset of neurological symptoms. Magnetic resonance imaging of the brain disclosed an acute ischemic infarction of the area supplied by the left middle cerebral artery. Protein C antigen was 40.7% (77-129%) and protein C activity was 46.3% (70-140%). No other possible associated causes of stroke were present. A survey of his relatives for protein C deficiency showed this deficiency in his mother, brother, sister and nephews. Protein C concentrations should be determined in cases of ischemic stroke in all young patients with no other major risk factors. Once protein C deficiency is detected, a search for protein C deficiency in the patient?s relatives should be performed to prevent the occurrence of ischemic strokes.

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