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March 3, 2026CureusOpen Access

Transient Dysphagia as a Presenting Symptom of Familial Cerebral Cavernous Malformation

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Authors

MSMadison L ScottDRDaniel E Ross

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Overview

Case report of transient dysphagia in a female with familial cerebral cavernous malformation, highlighting diagnostic challenges.

Key Points

  • Transient dysphagia resolved within one month after initial presentation, showcasing the condition's variability.
  • MRI indicated numerous punctate foci of susceptibility-related signal loss in both cerebral and cerebellar regions.
  • Genetic testing confirmed a pathogenic KRIT1 mutation, solidifying the diagnosis of familial cerebral cavernous malformation.
  • Highlights the necessity for thorough evaluation in patients experiencing unexplained neurologic symptoms.

Cite This Study

Scott et al. (2026) studied this question.

synapsesocial.com/papers/69a767babadf0bb9e87e21b2https://doi.org/10.7759/cureus.103056
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