Cerebral cavernous malformations (CCM) may occur as a sporadic form or as a familial form, which is far less common ^1,2,3. In Familial multiple cavernous malformation syndrome, also known as familial cerebral cavernous malformation (FCCM), an autosomal dominant pathology, there are multiple CCM (five or more) or the presence of CCM in at least two members of a family or the mutations in one of the three genes causing this disease ¹.

On CT, these lesions appear as focal, isodense, or high attenuation masses, and calcification is common ^4,5. Usually, edema or mass effect is not present ^3,4,5. Enhancement is typically variable ⁵. MR imaging is often the first diagnostic test. On MRI, there are lesions graded as type 1, 2, 3, or 4, according to Zabramski classification ^1,2.

The susceptibility-weighted (SWI) sequence has higher sensitivity than the gradient-echo (GRE) and fast-spin echo sequences to demonstrate the number of cavernomas in patients with the familial form of the disease ^1,2,3,4,5. GRE or SWI sequences promote exacerbation of the magnetic susceptibility effect (blooming effect) and result in the visual impression of increased lesion volume ³.

This patient has other family members with cerebral cavernous malformations fulfilling the criteria of familial multiple cavernous malformation syndrome.

Case courtesy

• Sterfferson Morais, MD - PGY-3, Radiology Resident, Department of Radiology
• Antonio Rodrigues de Aguiar Neto, MD - Radiologist, Department of Radiology
•  Hospital da Restauração – Recife, PE – Brazil