Varied Presentation Of Hereditary Spherocytosis In The Family: Unmasked By A Stroke In Young

Abstract

: Hereditary spherocytosis (HS) is due to alterations in genes that encode for proteins 
such as spectrin and ankyrin involved in vertical associations that tie the membrane skeleton to the 
lipid bilayer. Moya Moya disease is defined as severe bilateral stenosis of the arteries around circle 
of Willis with prominent collateral circulation. Hereditary spherocytosis causes decreased 
deformability of RBCs. Decreased deformability of RBC along with increased blood flow associated 
with anemia contribute to endothelial proliferation which progresses slowly and produces stenosis 
followed by occlusion. Here we present a young patient presenting with stroke who was diagnosed 
with hereditary spherocytosis associated with Moya Moya disease. Consider the possibility of Moya 
Moya disease in patient with HS presenting with stroke.