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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

Nadezda Sternic1, Aleksandra Pavlovic1, Predrag Miljic2, Milos Bajcetic3, Maja Lackovic4, Vesna Lackovic3 
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

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.


How to cite this article:
Sternic N, Pavlovic A, Miljic P, Bajcetic M, Lackovic M, Lackovic V. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency.Neurol India 2009;57:657-659


How to cite this URL:
Sternic N, Pavlovic A, Miljic P, Bajcetic M, Lackovic M, Lackovic V. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. Neurol India [serial online] 2009 [cited 2021 Apr 20 ];57:657-659
Available from: https://www.neurologyindia.com/article.asp?issn=0028-3886;year=2009;volume=57;issue=5;spage=657;epage=659;aulast=Sternic;type=0