Glucose-6-phosphate dehydrogenase deficiency: the added value of cytology.
We report the case of a 2 year-old boy hospitalized into the emergency room for influenza pneumonia infection. The evolution was marked by a respiratory distress syndrome, a severe hemolytic anemia, associated with thrombocytopenia and kidney failure. First, a diagnosis of hemolytic uremic syndrome (HUS) has been judiciously suggested due to the classical triad: kidney failure, hemolytic anemia and thrombocytopenia. But, strikingly, blood smears do not exhibit schizocytes, but instead ghosts and hemighosts, some characteristic features of a glucose-6-phosphate dehydrogenase deficiency. Our hypothesis has been confirmed by enzymatic dosage and molecular biology. The unusual initial aplastic feature of this anemia could be the result of a transient erythroblastopenia due to the viral agent, at the origin of the G6PD crisis on a background of a major erythrocyte anti-oxydant enzyme defect. This case of G6PD defect points out the continuously importance of the cytology, which was able to redirect the diagnosis by the hemighost and ghost detection.
Service d'hématologie biologique, Hôpital Robert Debré, AP-HP, Paris, France.
Marie
M
Roelens
Service de néphrologie pédiatrique, Hôpital Robert Debré, AP-HP, Paris, France.
Claire
C
Dossier
Service d'hématologie biologique, Hôpital Robert Debré, AP-HP, Paris, France.
Odile
O
Fenneteau
Département de génétique, Hôpital Robert Debré, AP-HP, Paris, France.
Nathalie
N
Couque
Service d'hématologie biologique, Hôpital Robert Debré, AP-HP, Paris, France, Université Paris 7-Denis Diderot, Sorbonne Paris Cité, Paris, France, Inserm U1149, CRI, Faculté de médecine Bichat Claude Bernard, Paris, France, Laboratoire d'Excellence, GR-Ex, Paris, France.
Lydie
L
Da Costa
D002675:Child, Preschool; D003581:Cytodiagnosis / Q000379:methods; D004910:Erythrocyte Membrane / Q000473:pathology; D004912:Erythrocytes / Q000473:pathology; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D011237:Predictive Value of Tests
G6PD deficiency; XE2100 Sysmex®; erythroblastopenia; ghosts; hemighosts; hemolytic anemia; influenza virus