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

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 prog...

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Published inNeurology India Vol. 57; no. 5; pp. 657 - 659
Main Authors Sternic, Nadezda, Pavlovic, Aleksandra, Miljic, Predrag, Bajcetic, Milos, Lackovic, Maja, Lackovic, Vesna
Format Journal Article
LanguageEnglish
Published India Medknow Publications and Media Pvt. Ltd 01.09.2009
Medknow Publications & Media Pvt. Ltd
Subjects
Brain - pathology
CADASIL
CADASIL - complications
CADASIL - pathology
Case studies
Coagulation protein disorders
Diagnosis
Factor XII Deficiency - complications
Factor XII Deficiency - pathology
Gene mutations
Genetic aspects
Health aspects
Humans
Magnetic Resonance Imaging - methods
Male
Middle Aged
Risk factors
Skin - pathology
Skin - ultrastructure
India
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Summary: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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ISSN:0028-3886
1998-4022
DOI:10.4103/0028-3886.57806