血液疾患と輸血ジャーナル

概要

PNH in a Child with Ringed Sideroblast-Diagnostic Riddle

Richa Juneja*, Gurpreet Sagoo, Priyanka Mishra, Renu Saxena

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired stem cell disorder presenting either with hemolytic or thrombotic event or co exists in patients with aplastic anemia and Myelodysplastic syndromes (MDS). These PNH clones have been shown to have prognostic and therapeutic implications. Flow cytometric analysis of GPI-linked proteins is the method of choice for diagnosis and it has replaced the acidified-serum lysis test (Hams test) and sucrose lysis test being quantitative and a more sensitive method. Occurrence of this PNH clones in pediatric patients is rare (10%) with few studies being reported. It can have varied clinical and haematological manifestations and should be considered in children especially in the setting of bone marrow failure causing cytopenia. We hereby present a rare case of child having hemolytic manifestation of PNH with cytopenias and unusual marrow findings. We are reporting this case because of the rarer presentation of an uncommon disorder and to highlight that though rare but PNH should be considered in a child with bone marrow failure, unexplained hemoglobinuria and thrombosis at unusual sites.