CADASIL mimicking primary angiitis of the central nervous system.
BACKGROUND
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and primary angiitis of the central nervous system (PACNS) share several clinical and radiological features. However, digital subtraction angiogram (DSA) is generally reported as normal in CADASIL, whereas lumen irregularities in distal cerebral arteries indicate PACNS.


OBJECTIVE
To describe a potential pitfall of DSA interpretation, which led to the tentative diagnosis of PACNS in a CADASIL patient.


METHODS
Single case observation.


RESULTS
A 47-year-old man sustained recurrent subcortical infarcts. He had mild hypercholesterolemia and migraine. His family history was unremarkable. The underlying cause of stroke could not be elucidated. Transcranial Doppler sonography revealed decreased intracranial blood flow velocities compatible with CADASIL. Lumen irregularities of several peripheral intracranial arteries were seen on DSA, which suggested PACNS. CADASIL was confirmed by results from skin biopsy and genetic testing.


CONCLUSIONS
First, in patients with CADASIL, DSA can show segmental lumen irregularities in distal cerebral arteries suggestive of PACNS. Second, the potential role of transcranial Doppler sonography to distinguish CADASIL from PACNS deserves further testing.
Engelter
Stefan T
ST
Neurological Clinic and Stroke Unit, University Hospital Basle, Petersgraben 4, CH-4031 Basel, Switzerland. sengelter@uhbs.ch
Rueegg
Stephan
S
Kirsch
Eberhard C
EC
Fluri
Felix
F
Probst
Alphonse
A
Steck
Andreas J
AJ
Lyrer
Philippe A
PA
D002493:Central Nervous System Diseases / Q000000981:diagnostic imaging / Q000473:pathology*; D020785:Central Nervous System Vascular Malformations / Q000473:pathology; D002533:Cerebral Angiography; D002544:Cerebral Infarction / Q000473:pathology; D002560:Cerebrovascular Circulation; D015161:Dementia, Multi-Infarct / Q000000981:diagnostic imaging / Q000473:pathology*; D003937:Diagnosis, Differential; D006801:Humans; D018810:Magnetic Resonance Angiography; D008297:Male; D008875:Middle Aged; D017585:Ultrasonography, Doppler, Transcranial; D014657:Vasculitis / Q000000981:diagnostic imaging / Q000473:pathology*