Oxidative stress‐related infantile pyknocytosis with Heinz bodies

Abstract

A 20-day-old Caucasian female baby, born at term from a twin pregnancy without perinatal complications, was hospitalized in a context of loss of appetite and jaundice worsening for 5 days. No consanguinity nor familial history of neonatal hemolytic anemia were found. The twin brother was healthy. The clinical examination was unremarkable. Biologic investigations showed an isolated severe hemolytic anemia (hemoglobin [Hb] 83 g/L, mean corpuscular volume 100 fL, reticulocytes 119 3 10 9 /L, bilirubin 172 mg/L). The blood film showed anisopoikilocytosis with dacryocytes, fragmented red blood cells (RBCs), hemighosts, and bite cells. Intriguingly, a high proportion (approx. 20%) of distorted, irregularly From the 1 Service d'H ematologie Biologique and the 2 Service d'Oncoh ematologie P ediatrique,

Infantile Pyknocytosis in a Premature Dichorionic Diamniotic Twin

“…In contrast to these cases, Berardi et al6 and Stephan et al7 reported 2 cases of a dizygotic twin, in whom only one of the siblings was affected by IP. However, in both cases the twin siblings were nonidentical, and hence a genetic origin cannot be excluded.…”

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.…”

“…Despite the similarities, differences between reported patients are also striking. Stephan et al [18] and Bobée and Lahary [21], reported cases where Heinz bodies were numerous, suggesting involvement of oxidative stress in the pathogenesis. In contrast, Tuffy et al [1]did not find Heinz bodies in any of their seven cases.…”

“…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.…”

Infantile pyknocytosis, a neonatal hemolytic anemia with Heinz bodies: A cohort study

“…12 Consequently, oxidative stress has been suggested as a potential factor in pyknocytosis development, as well supported by the observation of pyknocytes in other oxidative stress-related conditions, glucose-6-phosphate dehydrogenase (G6PD) deficiency especially, 13 and presence of Heinz bodies in some reports. 4,[14][15][16] Due to a diagnosis based on the exclusion of other potential causes and its spontaneous resolution, only few series of IP have been reported in the literature. This report describes the clinical and biological presentation from 16 neonates presenting self-limiting hyperbilirubinemia and hemolysis associated with irregularly contracted cells at acute phase, for whom the diagnosis of IP was strongly considered.…”