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encyclopedia of Rare Disease Annotation for Precision Medicine



  Down syndrome and Moyamoya disease: unusual cause of stroke

Down syndrome is a frequent clinical entity, being considered one of the most frequent chromosomal aberrations. It is characterised by a typical clinical phenotype and is associated with a heterogeneous group of organ and system-specific abnormalities. In Jun 24, 2017, Tavares Bello C and others published an article in << BMJ Case Report >> which title is“Down syndrome and Moyamoya disease: unusual cause of stroke”. The authors report the case of a 26-year-old woman with Down syndrome who presented with an acute stroke secondary to Moyamoya disease. The case is noteworthy for the rarity of this clinicopathological entity, and serves as a reminder for the possible association between these two conditions.

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