title: Cerebroretinal microangiopathy with occlusive telangiectasia and multisystemic manifestations.
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.
authors: University of Pennsylvania, Philadelphia, PA, USA. netan.choudhry@gmail.com
authors: Netan
authors: N
authors: Choudhry
authors: Anton
authors: A
authors: Orlin
authors: Larissa
authors: L
authors: Bilaniuk
authors: Albert M
authors: AM
authors: Maguire
mesh_terms: D000293:Adolescent; D059345:Cerebral Small Vessel Diseases / Q000150:complications / Q000175:diagnosis*; D003560:Cysts / Q000150:complications / Q000175:diagnosis*; D005451:Fluorescein Angiography; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D012171:Retinal Vessels; D013684:Telangiectasis / Q000150:complications / Q000175:diagnosis*; D041623:Tomography, Optical Coherence; D061205:Vascular Calcification / Q000150:complications / Q000175:diagnosis*