Paroxysmal nocturnal hemoglobinuria (PNH): An atypical case report

Luc Longrée, Renaud Roufosse, Stéphanie Maréchal, Julie Goffinet, Renaud Maquet, Christian Focan


Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) also called Marchiafava-Micheli syndrome is a rare disease (1.3 case per million inviduals). It is a clonal disorder caused by a medullary stem cells acquired mutations on the PIG-A gene, inducing a partial or general deficit of proteins linking to cell membrane through a glycophosphatidylinositol (GPI) anchor.

Case presentation: We confirmed the diagnosis of PNH in a 35-year-old woman presenting a relatively well tolerated but progressive pancytopenia and also a concomitant cyanocobalamin deficiency. The diagnosis was classically obtained through flow cytometry determination of specific disease markers on red blood cells (CD55; CD59; FLAER). After a CD34 selected grafting from his fully HLA-compatible brother as donor, the patient entered in a sustained complete remission of PNH syndrome.

Conclusion: After bone-marrow grafting, prolonged complete remission (cure) of PNH presenting primarily as a medullary insufficiency, may be obtained.

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Case Reports in Internal Medicine

ISSN 2332-7243(Print)  ISSN 2332-7251(Online)

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