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Familial multiple cavernous malformation syndrome : MR features in this uncommon but silent threat

Marc Mespreuve (UGent) , Filip Vanhoenacker (UGent) and Marc Lemmerling (UGent)
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Abstract
Cerebral cavernous malformations (CCM) are vascular malformations in the brain and spinal cord. The familial form of cerebral cavernous malformation (FCCM) is uncommon. This autosomal dominant pathology mostly presents with seizures and focal neurological symptoms. Many persons affected by FCCM remain asymptomatic. However, acute hemorrhages may appear over time. MRI demonstrates multiple focal regions of susceptibility induced signal loss, well seen on gradient-echo sequences (GRE) or even better on susceptibility-weighted imaging (SWI). The presence of a single CCM – especially in young persons – without history of FCCM does not exclude this diagnosis. Some clinicians also advise an MRI of the spinal cord at the time of diagnosis to serve as a baseline and a control MRI of the brain every one to two years. MRI is certainly indicated in individuals with obvious new neurologic symptoms. Symptomatic siblings should also undergo an MRI of the brain to determine presence, size, and location of the lesions. Even in asymptomatic siblings, a screening MRI may be considered, as there may be an increased risk of hemorrhage, spontaneous or due to the use of certain medications; the knowledge of the presence and the type of these lesions are important. Surgical removal of a CCM may be justified to prevent a life-threatening hemorrhage. Control MRI may reveal the postoperative outcome.
Keywords
Familial cerebral cavernous malformation syndrome, MRI, Cerebral cavernous malformation, CENTRAL-NERVOUS-SYSTEM, SUPERFICIAL SIDEROSIS, KRIT1, MUTATIONS, PATIENT, ANGIOMA, GENE, FORM

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Chicago
Mespreuve, Marc, Filip Vanhoenacker, and Marc Lemmerling. 2016. “Familial Multiple Cavernous Malformation Syndrome : MR Features in This Uncommon but Silent Threat.” Journal of the Belgian Society of Radiology 100 (1).
APA
Mespreuve, M., Vanhoenacker, F., & Lemmerling, M. (2016). Familial multiple cavernous malformation syndrome : MR features in this uncommon but silent threat. JOURNAL OF THE BELGIAN SOCIETY OF RADIOLOGY, 100(1).
Vancouver
1.
Mespreuve M, Vanhoenacker F, Lemmerling M. Familial multiple cavernous malformation syndrome : MR features in this uncommon but silent threat. JOURNAL OF THE BELGIAN SOCIETY OF RADIOLOGY. 2016;100(1).
MLA
Mespreuve, Marc, Filip Vanhoenacker, and Marc Lemmerling. “Familial Multiple Cavernous Malformation Syndrome : MR Features in This Uncommon but Silent Threat.” JOURNAL OF THE BELGIAN SOCIETY OF RADIOLOGY 100.1 (2016): n. pag. Print.
@article{7205200,
  abstract     = {Cerebral cavernous malformations (CCM) are vascular malformations in the brain and spinal cord. The familial form of cerebral cavernous malformation (FCCM) is uncommon. This autosomal dominant pathology mostly presents with seizures and focal neurological symptoms. Many persons affected by FCCM remain asymptomatic. However, acute hemorrhages may appear over time.
MRI demonstrates multiple focal regions of susceptibility induced signal loss, well seen on gradient-echo sequences (GRE) or even better on susceptibility-weighted imaging (SWI). The presence of a single CCM -- especially in young persons -- without history of FCCM does not exclude this diagnosis.
Some clinicians also advise an MRI of the spinal cord at the time of diagnosis to serve as a baseline and a control MRI of the brain every one to two years. MRI is certainly indicated in individuals with obvious new neurologic symptoms.
Symptomatic siblings should also undergo an MRI of the brain to determine presence, size, and location of the lesions. Even in asymptomatic siblings, a screening MRI may be considered, as there may be an increased risk of hemorrhage, spontaneous or due to the use of certain medications; the knowledge of the presence and the type of these lesions are important.
Surgical removal of a CCM may be justified to prevent a life-threatening hemorrhage. Control MRI may reveal the postoperative outcome.},
  articleno    = {51},
  author       = {Mespreuve, Marc and Vanhoenacker, Filip and Lemmerling, Marc},
  issn         = {1780-2393},
  journal      = {JOURNAL OF THE BELGIAN SOCIETY OF RADIOLOGY},
  keyword      = {Familial cerebral cavernous malformation syndrome,MRI,Cerebral cavernous malformation,CENTRAL-NERVOUS-SYSTEM,SUPERFICIAL SIDEROSIS,KRIT1,MUTATIONS,PATIENT,ANGIOMA,GENE,FORM},
  language     = {eng},
  number       = {1},
  pages        = {12},
  title        = {Familial multiple cavernous malformation syndrome : MR features in this uncommon but silent threat},
  url          = {http://dx.doi.org/10.5334/jbr-btr.938},
  volume       = {100},
  year         = {2016},
}

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