Blue rubber bleb naevus syndrome associated with cortical blindness

Jack Shannon, John Auld
Australasian Journal of Dermatology 2005, 46 (3): 192-5
An 83-year-old woman was admitted for investigation of sudden loss of vision. Extensive plum-purple papules and nodules involved her skin and lips but not mucosae. A cutaneous biopsy demonstrated irregular vascular cavernous channels in the dermis and subcutis; deeper vessels displayed smooth muscle. Blue rubber bleb naevus syndrome was diagnosed. This patient had no gastrointestinal symptoms, no family history of blue rubber bleb naevus syndrome, and only developed cutaneous signs after 60 years of age. Magnetic resonance imaging of the brain found multiple cerebral and cerebellar cavernomas with two larger foci of haemorrhage in both occipital lobes, with the largest in the right occipital lobe being associated with calcification. These most likely represent bleeding in relation to cavernomas believed to be the cause of decreased vision, predominantly in the left eye.

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