Cerebral Cavernous Malformation Case Review & Care Pathway Coordination

• Date and manner of diagnosis.
• Exact onset and progression of weakness, numbness, vision, speech, swallowing, balance or cognitive symptoms.
• Headache phenotype and whether migraine or another headache disorder has been assessed.
• Neurological examination and functional baseline.
• Previous episodes that may represent symptomatic haemorrhage.
• Recovery after each event and remaining deficits.
• Patient-defined goals and the functions they most need to preserve or regain.

• Original DICOM files and formal radiology reports.
• T1-, T2- and FLAIR-weighted sequences.
• Diffusion-weighted imaging.
• Susceptibility-sensitive imaging such as SWI, SWAN, VenoBOLD or equivalent.
• Post-contrast imaging where performed.
• Thin-slice sequences through brainstem, deep or small lesions where available.
• All previous MRI studies for comparison.

Susceptibility-sensitive sequences are particularly important for identifying small and multiple lesions. Different scanners and sequence sensitivity can change lesion counts and apparent size.

• Initial CT or MRI obtained at symptom onset.
• Evidence of acute or subacute blood, extralesional haemorrhage, oedema or mass effect.
• Hydrocephalus or ventricular obstruction where relevant.
• Serial imaging showing evolution of blood products.
• Alternative sources of haemorrhage already assessed.

Mixed-age blood products or a change in MRI signal does not by itself establish a new clinically symptomatic haemorrhage.

• Exact anatomical location and side.
• Maximum dimensions and relationship to pial, ventricular or ependymal surfaces.
• Relationship to motor, sensory, language, visual, cranial-nerve and brainstem pathways.
• Developmental venous anomaly or other venous structure.
• Associated oedema, gliosis or hemosiderin rim.
• Solitary lesion, local cluster or multiple distant lesions.

A developmental venous anomaly may drain normal brain tissue and is generally preserved rather than intentionally removed or occluded.

• Seizure semiology, first event and frequency.
• Witness descriptions or recordings where available.
• EEG, prolonged EEG or video-EEG reports.
• Antiseizure medication history, adherence, adverse effects and response.
• Whether seizures and imaging are anatomically concordant.
• Driving, employment and safety restrictions from the treating neurologist.
• Previous epilepsy-surgery or functional-mapping review.

• Operative report and surgical approach.
• Neuronavigation, tractography, functional mapping and monitoring data where available.
• Whether a developmental venous anomaly was preserved.
• Extent of lesion and hemosiderin-rim removal.
• Histopathology.
• Early postoperative MRI and later surveillance imaging.
• Residual lesion, rebleeding, recurrence, seizure and neurological outcome.

• Radiosurgery platform, target, dose and date.
• Rationale for radiosurgery and expected latency discussion.
• Laser interstitial thermal therapy plan and ablation volume where performed.
• Post-treatment oedema, haemorrhage or neurological change.
• Serial MRI and treatment-response assessment.
• Residual lesion and ongoing surveillance plan.

• Number and distribution of lesions on susceptibility-sensitive MRI.
• Family history of cavernous malformation, brain haemorrhage or related neurological disease.
• Previous genetic counselling.
• KRIT1/CCM1, CCM2 and PDCD10/CCM3 testing, including deletion or duplication analysis where performed.
• Testing and counselling records for relatives.
• New-lesion development over time.

Multiple susceptibility foci clustered around one developmental venous anomaly do not automatically establish familial CCM.

• Age at presentation, developmental and school impact in children.
• Previous cranial radiotherapy, field, dose and treatment date.
• Pregnancy status, planned pregnancy and obstetric history.
• Folate and antiseizure-medication planning where relevant.
• Previous pregnancy-related neurological or seizure events.
• Pediatric-to-adult transition records where applicable.

• Antiseizure, antiplatelet and anticoagulant medication.
• Indication for antithrombotic treatment and the specialist responsible.
• Physical, occupational, speech and neuropsychological rehabilitation reports.
• Current cognition, fatigue, mood, balance and return-to-work status.
• Access to local neurology, neurosurgery and emergency MRI.
• Ability to complete follow-up imaging and specialist review.
• Family or caregiver support and travel fitness.

A cavernous malformation is a low-flow lesion that is usually angiographically occult. A brain AVM has a high-flow nidus, an aneurysm is a focal arterial dilation, and haemorrhagic tumours or other lesions can sometimes mimic a cavernoma on imaging. Catheter angiography is generally not used to diagnose a typical CCM unless another vascular diagnosis remains possible.

Many CCMs are discovered during MRI performed for unrelated reasons. Prophylactic surgery is generally not justified for an asymptomatic deep or eloquent lesion solely because it exists. Common headache, dizziness, fatigue and non-specific symptoms should be assessed on their own merits rather than automatically attributed to an incidental cavernoma.

A clinically meaningful symptomatic haemorrhage generally combines a new acute or subacute neurological event with imaging evidence of recent bleeding in or around the lesion. Changes in internal blood-product signal, lesion size or hemosiderin without corresponding symptoms are not equivalent to symptomatic haemorrhage. The distinction matters because previous symptomatic bleeding can alter future-risk and treatment discussions.

Future haemorrhage risk varies with presentation, lesion location, previous symptomatic haemorrhage and follow-up interval. Brainstem and previously symptomatic lesions may behave differently from incidental supratentorial lesions. Population averages should not be presented as a precise forecast for one patient.

For a symptomatic lesion in a surgically accessible non-eloquent region, resection may be considered after weighing the expected future risk against operative morbidity. Dominant hemisphere, motor, sensory and visual areas require functional-anatomy review. Surface proximity can affect surgical accessibility, but no single distance threshold establishes a safe operation.

Brainstem, thalamic, basal-ganglia and other deep CCMs require particularly careful trade-off analysis because surgery can cause major neurological deficits. Observation after a first event may be reasonable in selected patients, while recurrent symptomatic haemorrhage, progressive deficit and a favourable safe-entry route can strengthen consideration of surgery. Brainstem CCMs should not be described as automatically operable or inoperable.

Surgical timing depends on neurological stability, lesion location, oedema, blood-product evolution and operative anatomy. Immediate surgery is not required for every symptomatic haemorrhage, while progressive deterioration, mass effect or hydrocephalus can create greater urgency. Timing should be determined by the treating neurosurgical team.

A supratentorial CCM can be epileptogenic through surrounding hemosiderin and gliosis, but a seizure does not automatically prove that the visible lesion is the source. Neurology, EEG and clinical–radiological concordance are particularly important when lesions are multiple or the event is uncertain. Antiseizure medication is commonly part of the initial pathway after a lesion-related seizure.

For medically refractory or otherwise appropriately selected CCM-related epilepsy, lesionectomy may improve seizure control. The plan may consider the lesion, hemosiderin rim, surrounding epileptogenic cortex and functional mapping. Surgery does not guarantee seizure freedom or withdrawal of antiseizure medication, and wider cortical resection is not automatically required.

A DVA may provide essential venous drainage for normal brain. It is generally preserved during cavernoma surgery because intentional occlusion or resection can cause venous infarction, oedema or haemorrhage. Small CCMs clustered near a DVA can represent a local sporadic pattern rather than inherited multifocal disease.

Multiple lesions away from a single DVA, affected relatives or new lesions over time can raise suspicion for familial CCM. The principal genes are KRIT1/CCM1, CCM2 and PDCD10/CCM3. Genetic testing and counselling can clarify inheritance and family implications, but penetrance and clinical severity vary substantially even within one family.

Children have a longer lifetime risk horizon and may experience developmental, educational and epilepsy-related effects. Symptomatic, growing or surgically accessible lesions may prompt treatment review, while deep or brainstem lesions require the same careful morbidity trade-off as in adults. Postoperative residual and recurrent lesions deserve long-term follow-up, and transition records should remain complete.

CCMs can develop years after cranial radiotherapy, especially after childhood treatment. The review should distinguish radiation-related lesions from tumour recurrence, treatment-related necrosis and other haemorrhagic abnormalities. Radiation-induced lesions do not automatically imply inherited CCM.

Available observational evidence does not show a clear major increase in symptomatic CCM haemorrhage during pregnancy compared with non-pregnant periods. Pregnancy planning should still address seizure medication, folate, familial counselling and access to urgent MRI and neurological care. Vaginal delivery is possible in many stable cases; recent haemorrhage or neurological status can alter obstetric planning.

The presence of a CCM does not automatically prohibit medically necessary antiplatelet or anticoagulant therapy. Available data are largely observational and direct oral anticoagulant evidence remains limited. Decisions should compare the indication and thrombotic risk with lesion location, previous haemorrhage and patient-specific factors. Medication should not be stopped without the responsible treating team.

Microsurgery can provide definitive removal of a selected lesion, but neurological risk depends heavily on location and approach. Goals include complete lesion removal where safely achievable, control of mass effect or recurrent haemorrhage and, in selected cases, seizure treatment while preserving normal venous anatomy. Risks include haemorrhage, infarction, cranial-nerve or tract injury, seizure, infection and permanent deficit.

Laser interstitial thermal therapy has been used in selected small or epilepsy-related lesions, but evidence is based mainly on limited series and is less established for large, recently haemorrhagic or brainstem CCMs. Radiosurgery may be considered for selected symptomatic eloquent lesions with prohibitive surgical risk, but it does not remove the lesion immediately and carries latency and radiation risks. Radiosurgery is generally not a preventive treatment for asymptomatic or familial CCM.

Routine MRI intervals are individualized because evidence does not support one universal schedule. New or worsening symptoms should prompt timely imaging. Meaningful outcomes include neurological function, haemorrhage-free follow-up, seizure control, cognition, quality of life and complete lesion removal where surgery was intended. A smaller lesion, changed MRI signal or completion of a procedure is not by itself a favourable patient outcome.