Intramedullary spinal arteriovenous malformation in a boy of familial cerebral cavernous hemangioma
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The coexistence of spinal arteriovenous malformation (AVM) and a familial cerebral cavernous hemangioma (CCH) is extremely rare.
A 9-year-old boy suddenly developed severe paraplegia and urinary dysfunction. Spinal magnetic resonance imaging (MRI) scan revealed a cervical and upper thoracic intramedullary lesion. Due to acute neurological dysfunction, the patient underwent emergency surgical exploration. An intramedullary vascular lesion was found and excised. Pathologically, AVM was noted. After the surgery, the boy was ambulatory with left lower limb stiffness. MRI scan of the brain revealed multiple cerebral cavernous hemangioma. Symptomatic multiple CCH in his mother and grandmother were also noted.
We concluded that the presence of spinal AVM should be suspected if the patient with familial CCH develops the signs of space-occupying lesion of the spinal cord, facilitating early diagnosis of the spinal AVM.