Familial multiple cavernous malformation syndrome
Citation, DOI & case data
Tetraparesis worse on the left side, headaches, and a past epileptic episode, but without new seizures.
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CT shows multiple focal hyperdense calcified lesions in the pons and the cerebral hemispheres.
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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.
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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.
- 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
- Osborne AG. Diagnostic neuroradiology. St. Louis, MO. Mosby – Year Book, Inc. 1994: 311-313. ISBN 0-8016-7486-7.
- Atlas SW. Ressonância Magnética do cérebro e da Coluna Vertebral. 3ª ed. Rio de Janeiro, RJ. Livraria e editora Revinter Ltda. 2008: 867-871. ISBN 978-85-372-0180-0.
- Pimenta SL, Mendes RR, Mendes DN. Lesões Císticas Intracranianas Não Neoplásicas. In Isabela CSS, D`Ippolito G, Rocha AJ, Vendolin L, Mendonça RA. ENCÉFALO – Série Colégio Brasileiro de Radiologia. Rio de Janeiro, RJ: Elsevier Editora Ltda: 2012: 473-477. ISBN 978-85-352-3140-3.
- Laurent Brunereau, Pierre Labauge, Elisabeth Tournier-Lasserve, Sophie Laberge, Claude Levy, Jean-Pierre Houtteville. Familial Form of Intracranial Cavernous Angioma: MR Imaging Findings in 51 Families1. (2000) Radiology. 214 (1): 209-16. doi:10.1148/radiology.214.1.r00ja19209 - Pubmed
- Marc Mespreuve, Filip Vanhoenacker, Marc Lemmerling. Familial Multiple Cavernous Malformation Syndrome: MR Features in This Uncommon but Silent Threat. (2016) Journal of the Belgian Society of Radiology. 100 (1): 51. doi:10.5334/jbr-btr.938 - Pubmed
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