Familial multiple cavernous malformation syndrome
Familial multiple cavernous malformation syndrome(s) are uncommon accounting for only a minority of cavernous malformations. In sporadic cases upto a third of cavernous malformations are multiple. When familial the number of cavernomas is higher, typically 5 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. It has been more frequently reported in patients of Hispanic descent 1.
Presentation is most commonly with seizures (38 - 55%) 1 and focal neurological deficits while recurrent large haemorrhages and headaches are less frequently encountered.
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
The MRI appearance may be mimiced by:
- artificial heart valve metalic emboli (very rare)
- pneumocephalus (very rare) 3
- 1. Brunereau L, Labauge P, Tournier-lasserve E et-al. Familial form of intracranial cavernous angioma: MR imaging findings in 51 families. French Society of Neurosurgery. Radiology. 2000;214 (1): 209-16. Radiology (full text) - Pubmed citation
- 2. Jain R, Robertson PL, Gandhi D et-al. Radiation-induced cavernomas of the brain. AJNR Am J Neuroradiol. 2005;26 (5): 1158-62. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 3. Palma JA, Zubieta JL, Dominguez PD et-al. Pneumocephalus mimicking cerebral cavernous malformations in MR susceptibility-weighted imaging. AJNR Am J Neuroradiol. 2009;30 (6): e83. doi:10.3174/ajnr.A1549 - Pubmed citation
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|Multiple cavernous malformation syndrome||✓|
|Multiple cavernoma syndrome||✗|
|Autosomal dominant multiple cavernous malformation syndrome||✓|