title: CADASIL mimicking primary angiitis of the central nervous system.
abstract: 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.
authors.affiliation: Neurological Clinic and Stroke Unit, University Hospital Basle, Petersgraben 4, CH-4031 Basel, Switzerland. sengelter@uhbs.ch
authors.forename: Stefan T
authors.initials: ST
authors.lastname: Engelter
authors.forename: Stephan
authors.initials: S
authors.lastname: Rueegg
authors.forename: Eberhard C
authors.initials: EC
authors.lastname: Kirsch
authors.forename: Felix
authors.initials: F
authors.lastname: Fluri
authors.forename: Alphonse
authors.initials: A
authors.lastname: Probst
authors.forename: Andreas J
authors.initials: AJ
authors.lastname: Steck
authors.forename: Philippe A
authors.initials: PA
authors.lastname: Lyrer
mesh_terms: 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*