Ijaz et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 3.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Burnside Butler syndrome or 15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality that is recently being recognized. Current diagnostic techniques like chromosomal microarray analysis (CMA) have profoundly contributed to currently reported cases. The diagnostic dilemma is that prenatal screening and karyotype analysis typically yield unclear results. We would like to emphasize the importance of taking a detailed family history, knowing the classic clinical features, and using CMA to help diagnose this syndrome. We present an eight-year-old Caucasian female with a past medical history of intrauterine growth restriction, microcephaly, a high arched palate, speech delay, and a learning disability with recurrent bleeding from the eyes and oral cavity. The bleeding co-occurs whenever she develops the common cold.
Moyamoya disease is an arterial disorder causing stroke in a young patient. This is a chronic condition causing progressive cerebrovascular disease due to bilateral stenosis and occlusion of the arteries around the circle of Willis, with prominent arterial collateral circulation. It was first described in Japan and subsequently reported in other Asian countries, but infrequently found in the Western world. Interestingly, there may be racial differences in the presentation and subsequent prognostication of treatment of moyamoya. It is diagnosed with classic angiographic findings of stenosis or occlusion of the circle of Willis vessels. Here, we describe a 28-year-old Caucasian female who was initially diagnosed with anxiety when she presented with symptoms of impaired concentration and fatigue. After the development of remitting slurred speech and facial droop, magnetic resonance imaging and cerebral angiogram yielded the discovery of high-grade stenosis of the origin of the left middle cerebral artery with associated thrombosis in that area. She did well after getting surgery and rehabilitation. This demonstrates a unique presentation of prominent psychiatric symptoms initially thought to be anxiety and culminated in the finding of ischemic stroke in an adult patient with moyamoya.
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