Familial cerebral cavernous malformation in a Filipino family
- Author:
Maria Veronica P. Comandao
1
;
Christopher O. Concepcion
1
Author Information
- Publication Type:Case Reports
- Keywords: cavernous malformation; cavernoma
- MeSH: Human; Male,Female; Adult: 25-44 yrs old; Middle Aged: 45-64 yrs old; Aged: 65-79 yrs old; familial cerebral cavernous malformation
- From: Health Sciences Journal 2024;13(2):102-106
- CountryPhilippines
- Language:English
-
Abstract:
Cerebral cavernous malformation (CCM) 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 Magnetic Resonance Imaging (MRI) findings and postmortem findings. Three genetic mutations have been identified: CCM1, CCM2, CCM3, with an incidence of 40%, 40% and 20%, respectively.
This study presents five members diagnosed with Familial CCM in a Filipino family. A 25-year-old male, from a low socio-economic background, was admitted due to a progressive generalized headache of 2 years’ duration, during which multiple brain lesions were observed on MRI. All members of the family became symptomatic before 30 years of age, and four out of the five members underwent surgery. However, molecular genetic testing was not performed as the patient could not afford it. The testing was not covered by the country’s insurance system, and it would have been an out-of-pocket expense.
In patients diagnosed with cerebral cavernous malformations, a thorough clinical and family history is warranted accompanied by MRI-GRE (Magnetic Resonance Imaging Gradient Echo) and MRI T2 help establish final diagnosis. Confirmation with molecular genetic testing should be offered to all members of the family for proper neurological and genetic care. - Full text:202501061051445881UERM6.pdf
