Familial Cerebral Cavernous Malformation in a Filipino Familye
Year: 2024
Type: article
Study design: Case Report
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.
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4401756556