[Familial cerebral cavernous angiomatosis]

Area of Science:

• Neurology
• Genetics
• Neurosurgery

Background:

• Familial cerebral cavernous angiomas (FCCA) are genetic vascular malformations.
• They often present with diverse neurological symptoms, including epilepsy and cognitive decline.
• FCCA exhibits variable penetrance and autosomal dominant inheritance.

Observation:

• Two patients with FCCA experienced prolonged, treatment-resistant epilepsy and neurological impairments.
• One patient underwent surgical resection of a cavernous angioma.
• This patient remained asymptomatic post-surgery.

Findings:

• FCCA lesions are frequently numerous and widespread, leading to polymorphous clinical manifestations.
• The disease course and lesion behavior are highly variable.
• Magnetic Resonance Imaging (MRI) is crucial for diagnosing brain lesions in patients with unexplained neurological symptoms or seizures.

Implications:

• Early diagnosis through MRI is vital for patients with unexplained neurological symptoms or epilepsy.
• Genetic markers could aid in diagnosing FCCA.
• Neurosurgical intervention should be considered for accessible lesions when medical management fails to control recurrent symptoms or epilepsy.