Natural History of Carvernous Malformation

Youmans Chapter 392Joseph M.Zabramski, Iman Feiz-Erfan

Outline

• Epidemiology• Clinical finding• Natural history

Epidemiology• 1 : 200-250,equal in both sex• 2 form

– Sporadic form• Single lesion

– Familial form• Mutiple lesion• Autosomal dominant

– chromosome 7q(CCM1)– chromosome 7p(CCM2)– chromosome 3q(CCM3)

• Pathognomonic : > or more 3 lesion + family history of seizure• T2 80 %, gradient echo 90 % for lesion

Epidemilogy• CNS

– 80% supratentorial– 15% brainstem and basal ganglia– 5% spinal cord

• Not all patient symptomatic

Clinical finding• Hemorrhages + Hemosiderin in cerebral tissue

surrounding : unique MRI• Increase in size : repeat small hemorrhage within lesion

and from spontaneous thrombosis of blood-filled cavern• Ruptures outside capsule : overt hemorrhage• Low flow, low pressure, hemorrhage

MRI classification

Axial T2-core of lesion reticulate : salt and pepper-surround by a halo of low signal-Patho : hemorrhage and thrombosis,hemosiderin-stained brain tissue-absence of mass effect and edema-type II

Coronal T1-focal subacute blood outside the capsule of lesion : overt extralesional-type IA

Axial T2-type II-type III

Supratentorial lesion• Seizure is the most common symptom• Do not contain neuronal tissue not intrinsic

epileptogenic• Focal gliosis, hemosiderin deposition in cellular and

humoral inflammatory response cause seizure• MRI evident acute/subacute hemorrhage• Pathology : surrounded by yellow-brown-stained border

that is infiltrated with hemosiderin-laden macrophages

• A : type II cavernous malformation c small type III cavernous malformation• B : close up view• C : Prussian blue – hemosiderin and iron deposition

Brainstem lesions• Sudden onset of focal neurological deficit,maximal at

onset• First episode : tend to resolve• Recurrent episode : progressive more severe deficit and

increase risk for permanent neurological impairment

Pt in first episodeA,B CT increase density at Rt.ponsC,D T2 ovet extralesional

Pt in 2 Mo laterE,F dramatic increase size of lesion

Spinal cord lesion• 2 From

– Major hemorrhage with sudden onset of symptom and neurological deficit

– Slow progressive myelopathic or radicular pain

• Patients with spinal cord cavernous malformation had significant risk for intracranial lesion

Natural history• Risk for recurrent hemorrhage higher in symptomatic

lesion • Overt or extralesional hemorrhage(type IA) : 30% per

year• Acute lesional hemorrhage(typeIB) or with symptomatic

type II lesion : 5-10% per year

Brainstem cavernous malformation

• Eloquence of surrounding structures• Episode of hemorrhage are much more likely to be

symptomatic• Risk for hemorrhage 2.5-6.8 % per year• Risk for rebleeding 5.1-60 per year, recent hemorrhage

or evidence of extralesional hemorrhage on MRI

Spinal cord cavernous malformation

• Rarely diagnosed before the onset of symptom• After symptomatic,progressive neurological deficit

Familial• Seizure,headaches with supratentorial lesion, focal

neurological deficit• Clinical silent hemorrhage were common• New lesion develop

Pregnancy and gender• Pregnancy and puerperium increase risk for hemorrhage• Cavernous malformation increase size• Management

– Base on time symptom develop, severity, imaging characteristic– Need for emergency neurological treatment during pregnancy is

rare– Method of delivery should be based on obstetric consideration

• Hemorrhage rate equal in both sex, hormonal no effect

Thank you