Cerebral Cavernous Malformations

What are Cerebral Cavernous Malformations?

Cerebral cavernous malformations (CCMs) are abnormal clusters of blood vessels primarily found in the brain and spinal cord. These lesions, often referred to as cavernomas, have thin, leaky walls that can lead to small haemorrhages. While many CCMs remain asymptomatic, others may cause significant neurological symptoms, depending on their size and location.

Types of Cerebral Cavernous Malformations

CCMs can be categorised based on their characteristics and origin:

1. Sporadic CCMs:

   • Typically occurs as a single lesion.

   • Most common form, with no identifiable family history.

2. Familial CCMs:

   • Inherited in an autosomal dominant pattern.

   • Often present as multiple lesions, increasing over time.

   • Associated with mutations in genes such as KRIT1, CCM2, or PDCD10.

Symptoms of Cerebral Cavernous Malformations

The symptoms of CCMs depend on their size, location, and whether they have caused bleeding. Common symptoms include:

• Seizures

• Headaches, which may be recurrent or severe

• Weakness or numbness in the limbs

• Vision or hearing problems

• Difficulty with balance or coordination

• Cognitive or memory disturbances

• Stroke-like symptoms due to haemorrhages

Diagnosis and Treatment Options

Diagnosis: CCMs are often discovered incidentally during imaging for unrelated symptoms. When symptoms do occur, diagnostic methods include:

• MRI with Gradient Echo or SWI: The most sensitive imaging modality for identifying CCMs.

• CT scans: May detect haemorrhages but are less effective in visualising small or non-haemorrhagic lesions.

• Genetic Testing: Recommended for patients with familial CCMs or multiple lesions.

Treatment: Management of CCMs depends on the lesion’s behaviour, size, and symptoms:

1. Observation:

   • Asymptomatic CCMs are typically monitored with regular imaging to track changes.

2. Medications:

   • Anti-epileptic drugs are used to control seizures.

   • Pain management for headaches or other related symptoms.

3. Surgical Resection:

   • Recommended for symptomatic lesions, particularly those causing recurrent seizures or haemorrhages.

4. Stereotactic Radiosurgery:

   • Considered for deep or inoperable lesions, though its effectiveness is still under research.

Conclusion

Cerebral cavernous malformations, though complex, are manageable with proper diagnosis and a tailored treatment plan. If you or your loved one are experiencing neurological symptoms, seek professional evaluation promptly. Early diagnosis and intervention can prevent complications and improve quality of life. For expert care, visit the Singapore Brain Spine Nerves Center today.