Familial multiple cavernous malformation syndrome

Case contributed by Dr Antonio Rodrigues de Aguiar Neto

Presentation

Tetraparesis worse on the left side, headaches, and a past epileptic episode, but without new seizures.

Patient Data

Age: 30 years
Gender: Male

CT shows multiple focal hyperdense calcified lesions in the pons and the cerebral hemispheres.

Magnetic resonance imaging (MRI) shows multiple bilateral and diffuse focal regions of susceptibility induced signal loss of variable size, well seen on gradient-echo (GRE) sequences, or even better on susceptibility-weighted imaging (SWI). The lesions range in size from a few millimeters to several centimeters in diameter. The GRE sequences result in a degree of blooming, and consequently in an overestimation of the actual size of the lesions.

Case Discussion

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
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Case information

rID: 68950
Published: 22nd Jun 2019
Last edited: 12th Oct 2019
Inclusion in quiz mode: Included
Institution: Real Hospital Português de Pernambuco - Recife, PE - Brazil

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