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   CADASIL   
   Dr Henry Knipe ◉ and Dr Donna D'Souza et al.   
   Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and   
   Leukoencephalopathy (CADASIL) is an autosomal dominant microvasculopathy,   
   characterised by recurrent lacunar and subcortical white matter ischaemic   
   strokes and vascular dementia in    
   young and middle age patients without known vascular risk factors. There is   
   disproportionate cortical hypometabolism.   
      
   Epidemiology   
      
   CADASIL is an autosomal dominant trait, with patients typically becoming   
   symptomatic in adulthood (30-50 years of age).   
      
   Clinical presentation   
      
   Presentation is usually with recurrent transient ischaemic attacks (TIAs) or   
   strokes in multiple vascular territories. Presenile dementia and migraines   
   develop in the third-to-fourth decades of life. Clinically CADASIL often has a   
   similar presentation as    
   migraines and may also have auras. Depression, psychosis, pseudobulbar palsy   
   and focal neurological defects as well as seizures are also seen 2,3.   
      
   Pathology   
      
   CADASIL results from a mutation on chromosome 19q12 involving the Notch 3   
   gene, and as the name implies is inherited as an autosomal dominant trait. It   
   results in small vessel and arteriole stenosis secondary to fibrotic   
   thickening of the basement    
   membrane of the vessels.   
      
   Histology   
      
   An angiopathy of small and middle sized arteries is characteristic, without   
   atherosclerosis or amyloid deposition 3. Diagnosis requires genetic   
   identification of the mutated gene 4.   
      
   Radiographic features   
      
   CT   
      
   CT is non-specific, demonstrating white matter regions of low attenuation.   
      
   MRI   
      
   MRI is the investigation of choice, often demonstrating widespread confluent   
   white matter hyperintensities 2. More circumscribed hyperintense lesions are   
   also seen in the basal ganglia, thalamus and pons 3.   
      
   Although the subcortical white matter can be diffusely involved, in the   
   initial course of the disease involvement of the anterior temporal lobe (86%)   
   and external capsule (93%) are classical 2. There is relative sparing of the   
   occipital and orbitofrontal    
   subcortical white matter 2, subcortical U-fibers and cortex 3.   
      
   Cerebral microhaemorrhages have been reported to occur in ~45% (range 25-70%)   
   of cases without a characteristic distribution 1.   
      
   Eventually cerebral atrophy ensues, which correlates well with the degree of   
   cognitive decline.   
      
   Treatment and prognosis   
      
   Typically the disease has a variable but progressive course leading to death   
   between 50-70 years of age 2,4.   
      
   Differential diagnosis   
      
   General imaging differential considerations include:   
      
   multiple early age infarcts from a hypercoagulable state   
   MELAS   
   primary angiitis   
   subcortical arteriosclerotic encephalopathy (SAE)   
   Susac syndrome   
   Practical points   
      
   think of it in younger patients with small vessel ischaemic white matter change   
   predilection for anterior temporal lobe white matter is a distinctive feature   
   sparing of the cortex and subcortical U-fibres is typical   
   See also   
      
   CARASIL   
   References   
   1. Blitstein MK, Tung GA. MRI of cerebral microhemorrhages. AJR Am J   
   Roentgenol. 2007;189 (3): 720-5. doi:10.2214/AJR.07.2249 - Pubmed citation   
   2. Yousry TA, Seelos K, Mayer M et-al. Characteristic MR lesion pattern and   
   correlation of T1 and T2 lesion volume with neurologic and neuropsychological   
   findings in cerebral autosomal dominant arteriopathy with subcortical infarcts   
   and    
   leukoencephalopathy (CADASIL). AJNR Am J Neuroradiol. 1999;20 (1): 91-100.   
   AJNR Am J Neuroradiol (full text) - Pubmed citation   
   3. Auer DP, Pütz B, Gössl C et-al. Differential lesion patterns in CADASIL   
   and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study   
   with statistical parametric group comparison. Radiology. 2001;218 (2): 443-51.   
   Radiology (full text) -    
   Pubmed citation   
   4. Bohlega S, Al Shubili A, Edris A et-al. CADASIL in Arabs: clinical and   
   genetic findings. BMC Med. Genet. 2007;8 : 67. doi:10.1186/1471-2350-8-67 -   
   Free text at pubmed - Pubmed citation   
   5. Lotz PR, Ballinger WE, Quisling RG. Subcortical arteriosclerotic   
   encephalopathy: CT spectrum and pathologic correlation. AJR Am J Roentgenol.   
   1986;147 (6): 1209-14. AJR Am J Roentgenol (abstract) - Pubmed citation   
   Synonyms & Alternative Spellings   
   Synonyms or Alternative Spelling	Include in Listings?   
   Cerebral autosomal dominant arteriopathy with subcortical Infarcts and   
   leukoencephalopathy   
      
      
      
   http://radiopaedia.org/articles/cadasil   
      
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