From the Guidelines
For cavernoma work-up, I strongly recommend starting with an MRI of the brain, specifically utilizing T2-weighted gradient-echo imaging or susceptibility-weighted imaging (SWI), as these sequences are most sensitive for detecting cavernomas and can show additional lesions not visible on spin-echo imaging 1. This approach is crucial because cavernomas can present with various stages of hemorrhage, and the presence of acute and subacute blood products increases the likelihood of future hemorrhage 1. The initial work-up should also include a thorough neurological examination to assess for any deficits related to the cavernoma's location. If the cavernoma is symptomatic with seizures, an electroencephalogram (EEG) should be performed to guide seizure management. For patients with multiple cavernomas or a family history, genetic testing for CCM1, CCM2, and CCM3 mutations is appropriate, considering that 10% of patients with cavernoma have a family history and may have these genetic mutations 1. Regular follow-up imaging is necessary, typically annually for asymptomatic cavernomas and more frequently for symptomatic ones, given the annual hemorrhage rate of 3.3% to 4.5% 1. Key considerations in the management of cavernomas include:
- Neurosurgical consultation for symptomatic, growing, or high-risk location cavernomas
- Seizure management with antiseizure medications
- Close monitoring after hemorrhage, especially in the first year
- Genetic testing for those with a family history or multiple lesions The goal of the work-up is to determine the appropriate management strategy, whether observation, medical treatment, or surgical intervention, to minimize morbidity, mortality, and improve quality of life for patients with cavernomas.
From the Research
Cavernoma Work-up
- Cavernoma diagnosis relies on various MR imaging techniques, which detect different characteristics of the lesions as well as aid in planning the surgical treatment 2.
- Magnetic resonance imaging (MRI) is a sensitive and specific method for the detection of cavernomas, especially in the diagnostic evaluation of symptomatic seizures 3.
- The clinical presentation and the location of the lesion are the most important factors involved in determining the optimal course of treatment of cavernomas 2.
Treatment Options
- Microsurgical resection, stereotactic radiosurgery, and conservative management are the available methods of treatment for cavernomas, each with its advantages and limitations 2.
- Surgical treatment of cavernomas seems to be the most successful antiepileptic therapy in patients with intractable epilepsies 3.
- Patients with cavernoma-related epilepsy who underwent initial surgery showed better results in seizure control and the discontinuation of antiepileptic drugs than the conservatively treated patients 4.
Diagnostic Evaluation
- MRI findings such as small size, eccentric axial location, minimal enhancement, and absence of edema can be used to distinguish spinal cavernous angioma from hemorrhagic ependymoma 5.
- Serial MRI changes in cases of cavernous angioma may include increased longitudinal spreading of the hemorrhage and emergence of high signal intensity on T1WI 5.
- An epilepsy-oriented brain MRI study, integrated by an appropriate neurophysiological and clinical assessment, is essential for the presurgical workup of cavernoma-related epilepsy 6.