Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy

Sanjeev Rajakulendran; Sreeman Andole; Angus Kennedy

doi:10.1136/bcr.01.2011.3784

Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy

BMJ Case Rep. 2011 Mar 24:2011:bcr0120113784. doi: 10.1136/bcr.01.2011.3784.

Authors

Sanjeev Rajakulendran¹, Sreeman Andole, Angus Kennedy

Affiliation

¹ Department of Neurology, Chelsea and Westminster Hospital, Barnet Hospital, Barnet, UK.

Abstract

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.

Publication types

Case Reports

MeSH terms

Adult
Base Sequence*
Brain Neoplasms / complications
Brain Neoplasms / diagnosis*
Brain Neoplasms / genetics
Cerebrum*
Epilepsy / etiology*
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
Microtubule-Associated Proteins / genetics*
Proto-Oncogene Proteins / genetics*
Sequence Deletion*

Substances

Genetic Markers
KRIT1 Protein
KRIT1 protein, human
Microtubule-Associated Proteins
Proto-Oncogene Proteins

Supplementary concepts

Familial cerebral cavernous malformation