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Published on: September 20, 2018
Cerebroretinal microangiopathy with occlusive telangiectasia and multisystemic manifestations
Netan Choudhry1, Anton Orlin, Larissa Bilaniuk
1University of Pennsylvania, Philadelphia, PA, USA. netan.choudhry@gmail.com
Abstract:
Cerebroretinal microangiopathy with calcification and cysts is a multisystem autosomal-recessive disorder in which there is an obliterative angiopathy of small vessels, primarily in the brain, retina, and gastrointestinal tract. We present the case of a 14-year-old boy with cerebroretinal microangiopathy with calcification and cysts illustrating the classic occlusive retinal telangiectasias. His condition was diagnosed using multiple imaging modalities, including upper gastrointestinal endoscopy of the upper gastrointestinal tract, magnetic resonance imaging, optical coherence tomography, and fluorescein angiography.
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