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.
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
The MRI appearance may be mimiced by:
- artificial heart valve metalic emboli (very rare)
- pneumocephalus (very rare) 3
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