Rare Diseases Symptoms Automatic Extraction

Acute watershed infarcts with global cerebral hypoperfusion in symptomatic CADASIL.

[cadasil]

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary cerebral angiopathy. We present a case in which a pattern of diffusion signal change compatible with bihemispheric acute watershed infarcts occurred in a symptomatic patient demonstrating global hypoperfusion. To our knowledge, watershed infarcts in the clinical presentation of CADASIL have not been previously described.

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  • benign recurrent intrahepatic cholestasis
  • cadasil
  • child syndrome
  • classical phenylketonuria
  • cutaneous mastocytosis
  • erythropoietic protoporphyria
  • familial mediterranean fever
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  • holt-oram syndrome
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  • oral submucous fibrosis
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  • severe combined immunodeficiency
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