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 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.
Sternic
Nadezda
N
Institute of Neurology, University Clinical Center, Belgrade, Serbia.
Pavlovic
Aleksandra
A
Miljic
Predrag
P
Bajcetic
Milos
M
Lackovic
Maja
M
Lackovic
Vesna
V
D001921:Brain / Q000473:pathology; D046589:CADASIL / Q000150:complications* / Q000473:pathology; D005175:Factor XII Deficiency / Q000150:complications* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D012867:Skin / Q000473:pathology / Q000648:ultrastructure