Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene.

Cerebral cavernous malformations (CCMs) are vascular anomalies with dilated, thin-walled capillaries. The disease can occur in sporadic or autosomal dominant-inherited forms (familiar forms), with incomplete penetrance and multiple lesions [1]. Moyamoya disease (MMD) is a dynamic cerebrovascular disease [2] where the outgrowth of small collateral vessels produces the radiological image of a hazy ‘puff of smoke', giving its name to the disease. According to the diagnostic criteria, MMD is characterized by stenosis or occlusion of the terminal portion of the Internal Carotid Artery (ICA) and/or the proximal portions of the anterior or the middle cerebral arteries (ACAs, MCAs), with irregular vascular networks near the stenosis. The disease is defined ‘probable' or ‘unilateral' MMD when findings are unilateral and ‘definite' MMD, when findings are bilateral [3]. Unilateral MMD occurs in almost 10-15% of all MMD: in children it usually extends bilaterally within 1-2 years, otherwise the disease tends to remain unilateral in adults [4]. We report here a case of cerebral cavernous angiomatosis associated with unilateral MMD in a patient with a first-ever described mutation in the KRIT1/CCM1 gene.