MOYA-MOYA DISEASE - CLINICAL AND PATHOLOGICAL REPORT OF A CASE WITH ASSOCIATED MYOPATHY

A British born white man, aged 51 yr, presented with cerebrovascular insufficiency, and was found radiologically to have moya-moya disease. He also suffered from a late onset type of progressive myopathy. Five months after the first signs of cerebrovascular disease, he died of massive cerebellar infarction. At necropsy, the brain showed multiple old and recent infarctions. The anterior cerebral, middle cerebral, and posterior communicating arteries showed segments of narrowing and occlusion by delicate connective tissue, with marked thickening and folding of the elastic lamina. Many dilated thin-walled vessels without a muscle layer and with a poorly formed elastic lamina were present in the subarachnoid space, these probably being newly formed collateral vessels. The cause of the occlusive lesions affecting the cerebral arteries is not known but the morphological appearances do not fall within any known aetiology. It seems that moya-moya disease could be regarded as a distinct entity.