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Cerebral Cavernous Malformation

Vascular Malformation of CNS

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Cerebral Cavernous Malformation?

Vascular lesions composed of dilated, thin-walled vascular caverns lined by endothelium without intervening neural tissue.

Found in brain (most common) and spinal cord; supratentorial or infratentorial.

Sporadic (single lesion, ~80%) or familial (multiple lesions, ~20%) — autosomal dominant.

Can occur with developmental venous anomaly (DVA) — common association.

Annual hemorrhage risk 0.5-3% (sporadic), higher in familial and previously hemorrhaged.

Symptoms

Many asymptomatic — found incidentally on MRI.
Seizures (most common symptomatic presentation, especially supratentorial).
Focal neurological deficits (depending on location).
Headache.
Brainstem CCMs: cranial nerve palsies, dysphagia, dysarthria, ataxia.
Spinal cord CCMs: myelopathy.
Acute hemorrhage: sudden severe symptoms.

Risk Factors

Familial: KRIT1/CCM1 (most common), CCM2, PDCD10/CCM3 mutations.
Hispanic-American populations have founder CCM1 mutations.
Brain irradiation (radiation-induced CCMs).
Pregnancy: hormonal influence may increase hemorrhage risk (controversial).
Anticoagulation: not contraindicated but increases hemorrhage risk in some studies.

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • New-onset seizure with abnormal MRI.
  • Sudden focal neurological deficit suggesting hemorrhage.
  • Family history of cavernoma with new neurological symptoms.
  • Worsening headache or progressive neurological deficit.
  • Brainstem symptoms (diplopia, swallowing difficulty).

Treatment Methods

01
MRI: T2-weighted shows mixed signal 'popcorn' appearance with hemosiderin rim (T2*/SWI very sensitive).
02
Genetic testing if multiple lesions (familial CCM).
03
Asymptomatic CCM: observation with serial MRI (annual or biennial).
04
Symptomatic seizures: antiseizure medications (levetiracetam, carbamazepine, valproate).
05
Surgical resection for: refractory seizures, recurrent hemorrhage, accessible symptomatic lesion, large/accessible single lesion.
06
Surgical risk depends on location: brainstem and deep eloquent cortex high-risk.
07
Stereotactic radiosurgery: option for surgically inaccessible lesions but slow effect, controversial efficacy.
08
Avoid anticoagulation if possible; if necessary, weigh risks individually.
09
Family screening if familial form (MRI + genetic testing).
10
Pregnancy management: continue surveillance; vaginal vs C-section based on lesion location and size.
11
Avoid contact sports if multiple/symptomatic lesions.

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Nöroloji Department

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You can make an appointment with our specialists or contact us for your concerns.

Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.