Pyknocytose infantile : une cause d’anémie hémolytique néonatale. Érythropoïétine recombinante, une alternative à la transfusion ?

Infantile Pyknocytosis: End-Tidal CO, %Micro-R Measurements, Next-Generation Sequencing, and Transfusion Avoidance with Darbepoetin

“…Since 1959, patients with infantile pyknocytosis have been reported from the USA [1, 4, 20], France [2, 8, 15, 16, 18, 21], Greece [3], Mexico [5], Australia [6], Lebanon [7, 9], Italy [10, 14, 17], Belgium [11], Israel [12], Brazil [13], and the United Kingdom [19]. Similarities in the reported cases are striking; all have pyknocytes on the blood film, all have anemia and jaundice that resolves after 2–6 months, and practically all received multiple red blood cell transfusions.…”

“…The mainstay of treating neonates with this condition is erythrocyte transfusion. However, Amendola et al [ 10 ], Buzzi et al [ 14 ] (of the same group), and Bago et al [ 16 ] tried a different approach. They administered recombinant erythropoietin and found that, thereafter, transfusions were not needed.…”

“…That initial publication and all subsequent case reports [ 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 ] did not reveal the cause of this condition. Though these accounts are heterogeneous, there are several unifying elements: (1) neonatal presentation with Coombs-negative jaundice and anemia, (2) blood smears show abundant contracted burr cells (pyknocytes), (3) erythrocyte transfusions are generally needed for 2 or 3 months, (4) complete remission with no residual effects.…”