Recurrent Paradoxical Embolism and Manganese Deposition in the Basal Ganglia in a Patient with Hereditary Haemorrhagic Telangiectasias: A Case Report and Literature Review

Abstract

Background Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant inherited vascular disorder that can involve multiple organs, thus can be associated with so many clinical departments that proper screening and diagnosis of HHT are needed for providing better management of both patients and their family members. Case presentation: we present a 58-year-old female patient with recurrent paradoxical brain embolism due to HHT. Though ischemic stroke caused by HHT-induced vascular disorders has been reported, our patient presented with two neurological complications at the same time: recurrent paradoxical brain embolisms and bilateral globus pallidus manganese deposition, which is rarely reported. We also review the literature on the clinical features and management of HHT for prompt diagnosis of this genetic disease behind paradoxical embolism. Conclusions When patients with ischemic stroke, especially recurrent ischemic stroke, have combined AVMs in single or multiple organs, or clues for AVMs like manganese deposition in globus pallidus, genetic diseases such as HHT may be the reason for ischemic stroke and shouldn't be missed in the evaluation of embolic sources.