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Related Experiment Videos

"CADASIL coma": an underdiagnosed acute encephalopathy.

F Schon1, R J Martin, M Prevett

  • 1Clinical Neuroscience, St George's Hospital Medical School, London, UK. schon@globalnet.co.uk

Journal of Neurology, Neurosurgery, and Psychiatry
|January 18, 2003
PubMed
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) can present as reversible acute encephalopathy, not just stroke or dementia. Consider CADASIL in unexplained encephalopathy cases, especially with migraine history.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Neurology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a genetic condition primarily known for causing stroke, dementia, and migraine.
  • Acute encephalopathy is an uncommon but significant presentation of CADASIL.

Purpose of the Study:

  • To highlight acute encephalopathy as a key clinical presentation of CADASIL.
  • To emphasize the importance of considering CADASIL in cases of unexplained acute encephalopathy.

Main Methods:

  • Review of clinical features in a British prevalence study of CADASIL.
  • Analysis of patient histories, including migraine, family history, and diagnostic misinterpretations.

Main Results:

Related Experiment Videos

  • Six out of 70 patients presented with reversible acute encephalopathy, characterized by fever, confusion, coma, and seizures.
  • Episodes lasted 7-14 days with full recovery, though recurrence was noted in two patients.
  • All affected patients had a history of migraine with aura and were initially misdiagnosed with viral encephalitis.

Conclusions:

  • Acute encephalopathy is a crucial, though often overlooked, presentation of CADASIL.
  • Diagnostic clues for CADASIL include a history of migraine with aura, MRI white matter changes, and a family history of stroke and dementia.
  • CADASIL should be included in the differential diagnosis for acute unexplained encephalopathies.