Moyamoya disease with concurrent von Recklinghausen's disease and cerebral arteriovenous malformation

Abstract

We present a rare autopsy case of von Recklinghausen's disease with Moyamoya vessels and arteriovenous malformation. A 58-year-old female patient suffered from dysarthria and dysphagia. On examination, Parkinson's signs, pseudobulbar palsy, and muscular weakness of the left extremity and pyramidal tract signs were observed. An enhanced brain computed tomography revealed abnormal high-density network vessels at the thalamus and midbrain. By cerebral angiography, the following changes were observed; occlusion of the right internal carotid artery at the bifurcation, and abrupt narrowing and occlusion of the left internal carotid artery at the bifurcation and siphon. A lateral vertebral arteriography revealed telangiectasia at the basilar tip. The patient died of pulmonary thromboembolism at age 61. The vessels of the circle of Willis were hypoplastic. The optic nerves, infundibulum and mammillary body were covered with a large number of ectastic vessels. Arteriovenous malformations were observed in the bilateral occipital lobes. Histopathologically, the elastic lamina of Moyamoya vessel was conspicuously wavy and often duplicated or triplicated, and discontinued occasionally. Discontinuity of the elastic lamina of the perforating arteries and circumferential arteries supplied by the middle cerebral artery (MCA), anterior CA (ACA) and posterior CA (PCA), was also occasionally observed. It is likely that the Moyamoya vessels in this patient were compensatorily formed by congenital hypoplasia of the internal artery, MCA, ACA and PCA.