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Unusual association of diseases/symptoms
Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy
  1. Sanjeev Rajakulendran1,
  2. Sreeman Andole2,
  3. Angus Kennedy1
  1. 1Department of Neurology, Chelsea and Westminster Hospital, Barnet Hospital, Barnet, UK
  2. 2Department of General Medicine and Geriatrics, Chelsea and Westminster Hospital, Barnet Hospital, Barnet, UK
  1. Correspondence to Dr Sreeman Narayan Andole, sreeman{at}doctors.org.uk

Summary

The authors present the case of a 25-year-old individual who presented acutely following a generalised tonic-clonic seizure. Brain MRI of the individual demonstrated the classical appearance of multiple cerebral cavernous haemangiomas (cavernomas). There was an autosomal dominant family history. Genetic testing identified a truncating mutation in the KRIT1 gene in the individual and confirmed the diagnosis of familial cerebral cavernomas as the cause of epilepsy in the family.

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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