CCM syndrome

= Cerebral Cavernous Malformation (CCM) Syndrome = Cerebral Cavernous Malformation (CCM) Syndrome is a rare genetic disorder characterized by the presence of vascular lesions in the brain and spinal cord. These lesions, known as cavernous malformations, are clusters of dilated blood vessels that can cause a variety of neurological symptoms.

Clinical Features

CCM syndrome can present with a range of symptoms depending on the location and size of the malformations. Common symptoms include:

• Seizures: Often the first sign of CCM, seizures can vary in type and severity.
• Headaches: Chronic headaches are a frequent complaint among individuals with CCM.
• Neurological Deficits: Depending on the location of the malformation, patients may experience weakness, numbness, or difficulty with coordination.
• Hemorrhagic Stroke: Bleeding from a cavernous malformation can lead to a stroke, causing sudden and severe symptoms.

Genetics

CCM syndrome is primarily inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene can cause the disorder. Three genes have been identified in association with CCM:

• [[KRIT1]]: Mutations in this gene are the most common cause of familial CCM.
• [[CCM2]]: Also known as malcavernin, mutations in this gene are another cause of the syndrome.
• [[PDCD10]]: Mutations in this gene are less common but also contribute to the development of CCM.

Diagnosis

Diagnosis of CCM syndrome typically involves:

• Magnetic Resonance Imaging (MRI): The primary tool for identifying cavernous malformations in the brain and spinal cord.
• Genetic Testing: Can confirm a diagnosis by identifying mutations in the associated genes.

Management

Management of CCM syndrome focuses on symptom control and monitoring:

• Antiepileptic Drugs: Used to control seizures.
• Surgical Intervention: In some cases, surgery may be necessary to remove a cavernous malformation, especially if it is causing significant symptoms or bleeding.
• Regular Monitoring: Patients often undergo regular MRI scans to monitor the size and number of malformations.

Research and Future Directions

Research into CCM syndrome is ongoing, with studies focusing on:

• Understanding Pathophysiology: Investigating how mutations lead to the formation of cavernous malformations.
• Developing New Treatments: Exploring potential therapies that could prevent the formation or growth of malformations.

See Also

• Vascular Malformations
• Genetic Disorders
• Neurological Diseases

,

 Advances in CCM Research, 
 Journal of Rare Diseases, 
 2022, 
 Vol. 15(Issue: 3), 
 pp. 123-130,

R,

 Genetic Disorders of the Brain, 
  
 Medical Press, 
 2021,

External Links

• National Organization for Rare Disorders
• CCM Care and Support

NIH genetic and rare disease info

• NIH info on CCM syndrome

CCM syndrome is a rare disease.