A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene

Excerpt

A 44-year-old female presented with an episodic left-sided throbbing headache associated with tearing of her left eye and occasional photophobia for the past 5 years. This headache was not associated with diplopia, drooping of her eyelids or redness of her eyes. Clinical examination was unremarkable.  She had brain imaging to rule out any structural abnormality. The Magnetic resonance imaging (MRI) of the head with susceptibility-weighted imaging (SWI) sequences showed multiple cavernoma (more than 5), the largest of them being in the left inferior frontal and left occipital lobe (Fig. 1). Her father and his niece also experienced recurrent headache, and both were found to have multiple cavernoma in magnetic resonance imaging. However, her father’s MRI scan revealed more infratentorial cavernoma than hers (Fig. 2). Her paternal grandfather died of intracerebral haemorrhage at the age of 60 years but had no genetic testing (not available that time). Her paternal grandfather’s twin brother also passed away at a young age, but the exact cause remained unknown.

…