Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy

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. Gen...

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Bibliographic Details
Published in:BMJ case reports 2011-03, Vol.2011 (mar16 1), p.bcr0120113784-bcr0120113784
Main Authors: Rajakulendran, Sanjeev, Andole, Sreeman, Kennedy, Angus
Format: Article
Language:English
Subjects:
Adult
Base Sequence
Brain Neoplasms - complications
Brain Neoplasms - diagnosis
Brain Neoplasms - genetics
Cerebrum
Chromosomes
Epilepsy
Epilepsy - etiology
Europe (West)
Genetic Markers
Genetic Testing
Hemangioma, Cavernous, Central Nervous System - complications
Hemangioma, Cavernous, Central Nervous System - diagnosis
Hemangioma, Cavernous, Central Nervous System - genetics
Humans
KRIT1 Protein
Magnetic Resonance Imaging
Male
Medical imaging
Microtubule-Associated Proteins - genetics
Mutation
Proto-Oncogene Proteins - genetics
Sequence Deletion
Unusual Association of Diseases/Symptoms
White
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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.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr.01.2011.3784