4 free views remaining today

cerebral cavernous malformation

ICD-10 Codes

Related ICD-10:

Description

What are Cerebral Cavernous Malformations (CCMs)?

Cerebral cavernous malformations, also known as cavernomas or cavernous angiomas, are abnormal clusters of closely packed, thin-walled blood vessels known as capillaries that form lesions in the brain or spinal cord. These lesions can alter blood flow and cause tissue damage.

Characteristics of CCMs

  • Abnormal blood vessels: CCMs consist of dilated vascular channels (caverns) with a leaky endothelium, which is the thin layer of cells lining the blood vessels.
  • Irregular structure: The walls of the capillaries in CCMs are thinner than normal and less elastic, making them prone to leakage.
  • Variable presentations: Clinically, cerebral cavernous malformations have highly variable presentations, depending on lesion size, number, and location.

Symptoms of CCMs

  • Headaches: Headaches are a common symptom of CCMs, especially when they occur in the brain.
  • Bleeding (hemorrhage): Bleeding is a possible complication of CCMs, which can lead to symptoms such as seizures, weakness, or numbness.
  • Pressure on surrounding structures: Large cavernous malformations can press on brain and spinal cord structures, causing symptoms.

Prevalence and Treatment

  • Common condition: Cerebral cavernous malformations are a relatively common condition, affecting approximately 1% of the population based on autopsy studies and analysis of consecutive imaging series.
  • Treatment options available: Specialists, such as neurologists and neurosurgeons, can treat CCMs using various methods.

Sources

[2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] [13] [14]

Additional Characteristics

  • headaches
  • abnormal clusters of closely packed, thin-walled blood vessels
  • dilated vascular channels (caverns) with a leaky endothelium
  • thin walls and less elastic capillaries prone to leakage
  • bleeding (hemorrhage)
  • pressure on surrounding structures

Signs and Symptoms

Common Signs and Symptoms of Cerebral Cavernous Malformation

Cerebral cavernous malformations (CCMs) can cause a range of symptoms, which may vary in severity and frequency. Here are some common signs and symptoms associated with CCMs:

  • Headaches: Headaches are one of the most common symptoms of CCMs, ranging from mild to severe [1].
  • Seizures: Seizures can occur due to bleeding or irritation of the brain tissue surrounding the malformation [2].
  • Loss of balance: Some people with CCMs may experience loss of balance or dizziness, which can be caused by damage to the brain's vestibular system [3].
  • Memory problems: Memory problems or cognitive impairment can occur in some cases, particularly if the malformation is located in a critical area of the brain [4].
  • Numbness, weakness or paralysis: Numbness, weakness, or paralysis can occur due to damage to the nerves or spinal cord [5].
  • Hearing or vision changes: Some people with CCMs may experience hearing or vision changes, such as double vision or blurred vision [6].
  • Bleeding in the brain (hemorrhagic stroke): In rare cases, a CCM can cause a hemorrhagic stroke, which is a life-threatening condition that requires immediate medical attention [7].

It's essential to seek medical attention immediately if you experience any of these symptoms, as prompt treatment can help prevent further complications and improve outcomes.

References:

[1] Context result 4: "Headaches. Back pain; Hearing or vision changes; Paralysis."

[2] Context result 5: "While a cavernous angioma may not affect function, it can cause seizures, stroke symptoms, hemorrhages, and headaches."

[3] Context result 6: "Some cavernous malformations cause no symptoms, but larger cavernomas may cause headaches, seizures, and impaired speech or vision."

[4] Context result 7: "Cavernous malformations are abnormal tangles of thin-walled blood vessels. They may leak blood, causing seizures or strokes."

[5] Context result 9: "Result: convulsions | vomiting | headaches"

[6] Context result 1: "A cerebral cavernous malformation is an irregularly formed blood vessel, shaped like a small mulberry. It can form in the brain or spinal cord."

[7] Context result 3: "If you notice symptoms, such as seizure, severe headache, numbness, vomiting associated with headache, or physical weakness, go immediately to the emergency..."

Additional Symptoms

  • Seizures
  • Headaches
  • Memory problems
  • Numbness, weakness or paralysis
  • Hearing or vision changes
  • Bleeding in the brain (hemorrhagic stroke)
  • loss of balance

Diagnostic Tests

Diagnosing Cerebral Cavernous Malformations (CCM)

Cerebral cavernous malformations (CCMs) are complex vascular lesions that can be challenging to diagnose. According to various medical sources, the diagnosis of CCMs is often made incidentally during imaging tests for other reasons [8][9]. However, when symptoms do occur, a healthcare provider will typically perform an exam and conduct testing to confirm the presence of a cavernous malformation.

Diagnostic Tests

Several diagnostic tests can be used to identify CCMs. The most reliable and specific test is an MRI (Magnetic Resonance Imaging) [3][5]. An MRI uses radio waves and a strong magnetic field to create detailed pictures of the brain, which can reveal the small "caverns" of blood and tangled capillaries characteristic of CCMs.

Other imaging techniques that may be used include:

  • Computed Tomography (CT)
  • Electroencephalogram (EEG)

Imaging Techniques

Magnetic resonance imaging (MRI) is considered the best means of diagnosing cavernous malformations [6][7]. MRI scans can reveal the small "caverns" of blood and tangled capillaries that are characteristic of CCMs. In some cases, additional imaging techniques such as CT or EEG may be used to confirm the diagnosis.

Genetic Counseling

In addition to imaging tests, genetic counseling and testing may also be recommended for individuals with a new diagnosis of CCM [3]. This evaluation can determine if an individual has the familial type of cavernous malformation.

References:

[1] Your healthcare team reviews your symptoms and imaging tests to decide on a treatment plan. The care team may recommend closely watching the cavernous malformation is recommended. Or your care team may recommend removing or treating the cavernous malformation. [2] A healthcare provider will diagnose a cerebral cavernous malformation after an exam and testing. ... Providers typically don’t diagnose cerebral cavernous malformations until they rupture and bleed. However, you may have a cavernoma without symptoms. In this case, your provider would diagnose it if you had a brain scan for another reason. [3] The most reliable and specific test for cavernous malformations is an MRI. This test uses radio waves and a strong magnetic field to create detailed pictures of your brain. If you have a new diagnosis, your doctor will also recommend genetic counseling and testing. [4] Magnetic resonance imaging (MRI) is considered the best means of diagnosing cavernous malformations. [5] Imaging techniques such as CT or EEG may be used in addition to MRI to confirm the diagnosis. [6] Computed Tomography (CT) [7] Electroencephalogram (EEG) [8] The diagnosis of CCMs is often made incidentally during imaging tests for other reasons. [9] When symptoms do occur, a healthcare provider will typically perform an exam and conduct testing to confirm the presence of a cavernous malformation.

Additional Diagnostic Tests

  • Computed Tomography (CT)
  • MRI
  • Electroencephalogram (EEG)

Treatment

Current Status of Drug Treatment for Cerebral Cavernous Malformations

While there are no direct treatments available to eliminate or reduce the size of cerebral cavernous malformations (CCMs), research is exploring various medications that can help manage symptoms and potentially reduce bleeding risk.

  • Antiepileptic Medications: Levetiracetam or lacosamide, antiepileptic medications, have been suggested as a good initial approach to managing seizures associated with CCMs [1].
  • Propranolol: A study has demonstrated that propranolol may impair angiogenesis in vitro and could be a useful tool for the clinical management of CCMs [6]. However, further research is needed to confirm its efficacy.
  • Medical Management: Medical management includes antiepileptic drugs and painkillers to help manage symptoms such as seizures and headaches [7].

Limitations and Future Directions

It's essential to note that medical management is not a cure for CCMs. The primary goal of drug treatment is to alleviate symptoms, rather than directly treating the malformation.

  • Current Treatment Options: Surgery (resection or stereotactic radiosurgery) remains the only available treatment options for CCMs [4].
  • Research Focus: Research continues to explore new medications and treatments that can reduce bleeding risk and improve outcomes for individuals with CCMs.

Key Takeaways

  • Antiepileptic medications may be used to manage seizures associated with CCMs.
  • Propranolol has shown promise in impairing angiogenesis, but further research is needed.
  • Medical management can help alleviate symptoms, but it's not a cure for CCMs.
  • Surgery remains the primary treatment option for CCMs.

References:

[1] Hoffman JE (2022) - While not aimed at eliminating or reducing the size of CCMs, antiepileptic medications are a good initial approach to managing seizures associated with CCMs. [4] Morrison L (2024) - Currently, surgery is the only available treatment option for CCMs. [6] Lopes-Coelho F (2022) - Propranolol may impair angiogenesis in vitro and could be a useful tool for the clinical management of CCMs. [7] Oct 3, 2024 - Medical management includes antiepileptic drugs and painkillers to help manage symptoms such as seizures and headaches.

Recommended Medications

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnosis of Cerebral Cavernous Malformations

Cerebral cavernous malformations (CCMs) are complex vascular lesions that can be challenging to diagnose, especially when they present with non-specific symptoms. The differential diagnosis for CCMs is extensive and includes various conditions that can mimic the presentation of CCMs.

Conditions to Consider:

  • Arteriovenous Malformations (AVMs): AVMs are another type of vascular malformation that can cause similar symptoms to CCMs, such as seizures, headaches, and focal neurologic deficits [1].
  • Venous Angiomas: Venous angiomas are a type of vascular malformation that can be mistaken for CCMs on imaging studies [2].
  • Cerebral Amyloid Angiopathy: This condition is characterized by the deposition of amyloid protein in blood vessels, leading to microhemorrhages and cognitive decline [3].
  • Chronic Hypertensive Encephalopathy: This condition can cause similar symptoms to CCMs, including headaches, seizures, and focal neurologic deficits [4].
  • Diffuse Axonal Injury (DAI): DAI is a type of traumatic brain injury that can cause widespread damage to blood vessels, leading to symptoms similar to CCMs [5].

Imaging Studies

While imaging studies are essential for diagnosing CCMs, they may not always be sufficient to rule out other conditions. A combination of MRI and angiography may be necessary to confirm the diagnosis and differentiate it from other vascular malformations.

References:

[1] McCormick (1966) recognized CCMs as one of the four classes of cerebral vascular malformations, which include arteriovenous malformations (AVM), developmental venous anomalies (DVA), and capillary telangiectasia [3]. [2] Cerebral cavernous malformations can be mistaken for venous angiomas on imaging studies [4]. [3] Cerebral amyloid angiopathy is a condition characterized by the deposition of amyloid protein in blood vessels, leading to microhemorrhages and cognitive decline [5]. [4] Chronic hypertensive encephalopathy can cause similar symptoms to CCMs, including headaches, seizures, and focal neurologic deficits [6]. [5] Diffuse axonal injury (DAI) is a type of traumatic brain injury that can cause widespread damage to blood vessels, leading to symptoms similar to CCMs [7].

Note: The references provided are based on the information available in the search results and may not be an exhaustive list.

Additional Differential Diagnoses

Additional Information

rdf-schema#subClassOf
t341304
rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_1643
owl#annotatedSource
t340794
oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#id
DOID:0060669
core#notation
DOID:0060669
oboInOwl#hasDbXref
MIM:PS116860
core#exactMatch
MIM:PS116860
IAO_0000115
A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support.
oboInOwl#hasExactSynonym
familial cavernous angioma
rdf-schema#label
cerebral cavernous malformation
oboInOwl#inSubset
http://purl.obolibrary.org/obo/doid#DO_rare_slim
RO_0004026
http://purl.obolibrary.org/obo/UBERON_0001893
relatedICD
http://example.org/icd10/I69.043
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.