Cerebral cavernous malformations.

A 59-year-old man presented to an outpatient clinic with a 1-year history of progressively worsening headaches. Neurologic examination was normal; skin examination revealed multiple hyperkeratotic papules and bluish, nodular skin lesions. Magnetic resonance imaging of the brain revealed numerous lesions consistent with cerebral cavernous malformations involving the cerebral hemispheres, cerebellum, and brain stem (Panel A shows a T2-weighted, fast field echo image, and Panel B a blood oxygenation level–dependent image; P denotes posterior). Cavernous malformations occur primarily in the brain but may also be found in the skin, spinal cord, and retina. A proportion of patients with cerebral cavernous malformations are asymptomatic, whereas others present with neurologic symptoms, such as seizures, headaches, and even fatal cerebral hemorrhage. Cerebral cavernous malformations can be sporadic or familial. The patient’s mother and maternal grandfather had cutaneous lesions similar to those in our patient but had not undergone brain imaging. Genetic analysis in our patient revealed a mutation in KRIT1 (also called CCM1) that was compatible with the diagnosis of the familial cerebral cavernous malformation syndrome. Owing to the vast number of cerebral cavernous malformations, neurosurgical treatment was not an option. This patient continues to have intermittent headaches, which are partially alleviated by beta-blockers. Mild cognitive decline with memory deficits has also developed.