International Journal For Multidisciplinary Research

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Familial Cerebral Cavernous Malformation in a Filipino Familye

Author(s) Maria Veronica Comandao, Christopher Concepcion
Country Philippines
Abstract Background of the Study
Cerebral cavernous malformation is a type of vascular malformations characterized by the absence of intervening brain parenchyma. Cerebral cavernous malformations are of two forms, sporadic and familial. About 0.4-0.8% of the population are affected as assessed based on MRI findings and postmortem findings. Three genetic mutations have been identified: CCM1, CCM2, CCM3, with an incidence of 40%, 40% and 20% respectively.
Clinical Presentation
This author presents 5 members diagnosed with FCCM within a Filipino family. A 25-year-old male who was admitted due to progressive generalized headache of 2 years duration wherein multiple brain lesions on MRI were seen. All members of the family became symptomatic before 30 years of age. 4 out of the 5 members underwent surgery. However, molecular genetic testing was not done.
Conclusion
In patients diagnosed with cerebral cavernous malformations, a thorough clinical and family history is warranted accompanied by MRI-GRE/T2* to help establish final diagnosis. Confirmation with molecular genetic testing should be offered to all members of the family for proper neurological and genetic care.
Keywords cavernous malformation, familial cerebral cavernous malformation, cavernoma
Field Medical / Pharmacy
Published In Volume 6, Issue 4, July-August 2024
Published On 2024-08-19
Cite This Familial Cerebral Cavernous Malformation in a Filipino Familye - Maria Veronica Comandao, Christopher Concepcion - IJFMR Volume 6, Issue 4, July-August 2024. DOI 10.36948/ijfmr.2024.v06i04.26264
DOI https://doi.org/10.36948/ijfmr.2024.v06i04.26264
Short DOI https://doi.org/gt7m4t
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