Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency
2009
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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