Cavernous Angiomas: Screening Of A Family Over Three Generations
Cavernous angiomas belong to a group of intracranial vascular malformations that are developmental malformations of the vascular bed. These congenital abnormal vascular connections frequently enlarge over time. The lesions can occur on a familial basis. Patients may be asymptomatic, although they often present with headaches, seizures, or small parenchymal hemorrhages.
In most patients, cavernous angiomas are solitary and asymptomatic. In recent times, increasing MRI has detected several such asymptomatic cases and has prompted a study into the genetics and natural history of this condition.
It is now known that cavernous angiomas have a genetic basis. Familial forms of cavernous angiomas are associated with a set of genes called CCM genes (cerebral cavernous angioma). This is a case report describing the phenotypic expression of a familial form of cavernous angioma.
CASE REPORT
A 54-year-old man was referred for an MRI of the brain with complaints of headache and seizures. A cranial CT scan revealed few hyperdense lesions. A subsequent cranial MRI scan revealed several lesions with features representing cavernous angiomas.
The patient was offered counseling and was treated conservatively. Genetic testing was not possible due to the high prohibitive cost. However, screening of the family members by MRI was recommended.
Cranial MRI of the immediate family members was performed. Four brothers of the patient and his mother were found to have multiple cavernous angiomas. The father, youngest brother, and his younger sister were found not to have any such lesion. Both children of the patient were also found to be free of these lesions. Incidentally, a meningioma was found in the father of the patient. Read more »
*This blog post was originally published at AJNR Blog*
