Familial multiple cavernous malformation syndrome
Updates to Article Attributes
Familial multiple cavernous malformation syndrome(s) are is uncommon, accounting for only a minority of cavernous malformations.
Epidemiology
It has been more frequently reported in patients of Hispanic descent 1.
Clinical presentation
The presentation is most commonly with seizures (38-55%) 1 and focal neurological deficits while recurrent large haemorrhages and headaches are less frequently encountered.
Pathology
In sporadic cases up to a third of cavernous malformations are multiple. When familial the number of cavernomas is higher, typically five or more 1 and may be as high as dozens and dozens.
Familial cases usually have an autosomal dominant pattern of inheritance with incomplete penetrance 1-2.
The definition of familial multiple cavernous malformation syndrome is when there is one or more of the following 4,5:
-
multiple cerebral cavernous malformations
(CCMs) -- five or more
-cavernomas, or... - one
CCMcavernoma and at least one other family member with one or moreCCMscavernomas
- five or more
mutations in one of the three genes, KRIT1, CCM2 or PDCD10, which are associated with this disease
See: Zabramski classification of cerebral cavernomas
Radiographic features
SeeThe radiographic appearance of each cavernous malformation depends on size although in many instances individuals have innumerable lesions randomly distributed throughout the brain.
For a discussion of the radiographic appearances see: cavernous malformations
Differential diagnosis
The differential is that of other causes of cerebral microhaemorrhages, including 2:
- cerebral amyloid angiopathy: usually numerous small foci
- chronic hypertensive encephalopathy: more common in the basal ganglia
- diffuse axonal injury (DAI)
- cerebral vasculitis
- radiation vasculopathy
- haemorrhagic metastases
- Parry-Romberg syndrome 2
MRI appearance may be mimicked by:
- artificial heart valve metallic emboli (very rare)
- pneumocephalus (very rare) 3
-<p><strong>Familial multiple cavernous malformation syndrome(s)</strong> are uncommon, accounting for only a minority of <a href="/articles/cerebral-cavernous-venous-malformation">cavernous malformations</a>.</p><h4>Epidemiology</h4><p>It has been more frequently reported in patients of Hispanic descent <sup>1</sup>.</p><h4>Clinical presentation</h4><p>The presentation is most commonly with seizures (38-55%) <sup>1</sup> and focal neurological deficits while recurrent large haemorrhages and headaches are less frequently encountered. </p><h4>Pathology</h4><p>In sporadic cases up to a third of cavernous malformations are multiple. When familial the number of cavernomas is higher, typically five or more <sup>1</sup> and may be as high as dozens and dozens.</p><p>Familial cases usually have an autosomal dominant pattern of inheritance with incomplete penetrance <sup>1-2</sup>. </p><p>The definition of familial multiple cavernous malformation syndrome is when there is one or more of the following <sup>4,5</sup>:</p><ul>-<li><p>multiple cerebral cavernous malformations (CCMs) - five or more - or one CCM and at least one other family member with one or more CCMs</p></li>-<li><p>mutations in one of the three genes, KRIT1, CCM2 or PDCD10, which are associated with this disease</p></li>-</ul><p>See: <a href="/articles/zabramski-classification-of-cerebral-cavernous-malformations">Zabramski classification of cerebral cavernomas</a></p><h4>Radiographic features</h4><p>See: <a href="/articles/cerebral-cavernous-venous-malformation">cavernous malformations</a></p><h4>Differential diagnosis</h4><p>The differential is that of other causes of <a href="/articles/cerebral-microhaemorrhage">cerebral microhaemorrhages</a>, including <sup>2</sup>:</p><ul>- +<p><strong>Familial multiple cavernous malformation syndrome</strong> is uncommon, accounting for only a minority of <a href="/articles/cerebral-cavernous-venous-malformation">cavernous malformations</a>.</p><h4>Epidemiology</h4><p>It has been more frequently reported in patients of Hispanic descent <sup>1</sup>.</p><h4>Clinical presentation</h4><p>The presentation is most commonly with seizures (38-55%) <sup>1</sup> and focal neurological deficits while recurrent large haemorrhages and headaches are less frequently encountered. </p><h4>Pathology</h4><p>In sporadic cases up to a third of cavernous malformations are multiple. When familial the number of cavernomas is higher, typically five or more <sup>1</sup> and may be as high as dozens and dozens.</p><p>Familial cases usually have an autosomal dominant pattern of inheritance with incomplete penetrance <sup>1-2</sup>. </p><p>The definition of familial multiple cavernous malformation syndrome is when there is one or more of the following <sup>4,5</sup>:</p><ul>
- +<li>multiple cerebral cavernous malformations <ul>
- +<li>five or more cavernomas, or...</li>
- +<li>one cavernoma and at least one other family member with one or more cavernomas</li>
- +</ul>
- +</li>
- +<li>mutations in one of the three genes, KRIT1, CCM2 or PDCD10, which are associated with this disease</li>
- +</ul><p>See: <a href="/articles/zabramski-classification-of-cerebral-cavernous-malformations">Zabramski classification of cerebral cavernomas</a></p><h4>Radiographic features</h4><p>The radiographic appearance of each cavernous malformation depends on size although in many instances individuals have innumerable lesions randomly distributed throughout the brain. </p><p>For a discussion of the radiographic appearances see: <a href="/articles/cerebral-cavernous-venous-malformation">cavernous malformations</a></p><h4>Differential diagnosis</h4><p>The differential is that of other causes of <a href="/articles/cerebral-microhaemorrhage">cerebral microhaemorrhages</a>, including <sup>2</sup>:</p><ul>
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