Cerebral Cavernous Malformations Presenting With Epileptic Spasms in Children

Area of Science:

• Neurology
• Neurosurgery
• Vascular Neurology

Background:

• Cerebral cavernous malformations (CCMs) are vascular abnormalities that can occur sporadically or as part of familial cavernoma syndrome.
• While focal seizures are common with CCMs, epileptic spasms are a rare presentation.

Purpose of the Study:

• To report and analyze cases of epileptic spasms associated with cerebral cavernous malformations.
• To identify potential factors contributing to the development of epileptic spasms in patients with CCMs.

Main Methods:

• Case series reporting on four female patients with epileptic spasms and CCMs.
• Patients presented with spasms at various ages (5 months to 10 years).
• All patients underwent epilepsy surgery to resect the CCM and surrounding hemosiderin-stained cortex.

Main Results:

• Four female patients developed epileptic spasms associated with CCMs, with onset at ages 5 months, 17 months, 9 years, and 10 years.
• Specific cases highlighted large lesion volume, familial cavernoma syndrome, and lesion location (precuneus, temporal lobe) as relevant factors.
• Epileptic spasms resolved post-surgery in all patients, though one continued to experience focal seizures.

Conclusions:

• Cerebral cavernous malformations can rarely manifest as epileptic spasms.
• Factors such as large lesion volume, precuneus location, and familial cavernoma syndrome may predispose individuals to epileptic spasms over focal epilepsies.
• Epilepsy surgery is an effective treatment for resolving epileptic spasms in patients with CCMs.