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 CASE REPORT
Year : 2009  |  Volume : 57  |  Issue : 5  |  Page : 657--659

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency


1 Institute of Neurology, University Clinical Center, Belgrade, Serbia
2 Institute of Hematology, University Clinical Center, Belgrade, Serbia
3 Institute of Histology and Embryology, School of Medicine, Belgrade, Serbia
4 Institute of Psychiatry, University Clinical Center, Belgrade, Serbia

Correspondence Address:
Aleksandra Pavlovic
Institute of Neurology, University Clinical Center, Dr. Subotica 6, Belgrade 11000, Serbia

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Source of Support: Ministry of Science, Republic of Serbia (project no. 145025D and no. 145061),, Conflict of Interest: None


DOI: 10.4103/0028-3886.57806

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited adult-onset microangiopathy caused by missense mutations in the Notch3gene on chromosome 19. However, common vascular risk factors may additionally modify clinical expression and progression of the disease. The role of various prothrombotic factors has also been implied. We report a case of a middle-aged man with typical clinical, neuroimaging and histological features of CADASIL, but with notably prolonged activated partial thromboplastin time. Hematological investigations revealed severe clotting Factor XII deficiency. This case illustrates that the occurrence of vascular risk factors should not be overlooked in patients with CADASIL.






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Online since 20th March '04
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