Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) presenting with

John S Phillips1, Jacquelyn A King, Siddharthan Chandran

  • 1Department of Otolaryngology, Norfolk and Norwich University Hospital, Norwich, UK. john.phillips@mac.com

Insights

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) can present with sudden sensorineural hearing loss. This case highlights the importance of family history in diagnosing rare neurological conditions.

Area of Science:

  • Neurology
  • Genetics
  • Otolaryngology

Background:

  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic disorder.
  • It typically manifests with cerebrovascular events, migraine, and cognitive decline.

Observation:

  • A case study detailing a patient whose initial symptom was sensorineural hearing loss.
  • This presentation is unusual, with no prior documented instances in medical literature.

Findings:

  • The study reports the first known case of CADASIL presenting primarily with sudden sensorineural hearing loss.
  • This finding expands the known clinical spectrum of CADASIL.

Implications:

  • Highlights the importance of thorough patient history, particularly family history, in diagnosing complex neurological disorders.
  • Suggests that hearing loss may be an underrecognized early symptom of CADASIL, prompting further investigation.

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