Multiple cerebral cavernomata - KRIT1 mutation

Case contributed by Dr Andrew Kirby

Presentation

Headache. Possible seizures. Otherwise developing well and normal neurological exam. Multiple family members have a similar history.

Patient Data

Age: 14 years
Gender: Female

Multiple T2 low signal foci throughout both hemispheres and cerebellum. These correspond with marked blooming artefact on SWI, consistent with calcification (later confirmed with CT). The appearances are typical of multiple cavernomata.

Case Discussion

The patient has subsequently been found to have a genetic KRIT1 mutation, which is associated with multiple cavernomata.

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