19 May 2026
: Case report
Neonatal-Onset Refractory Thrombocytopenia and Anemia Associated With a Homozygous In-Frame NFE2 Duplication
Challenging differential diagnosis, Rare disease, Congenital defects / diseases, Rare coexistence of disease or pathology
Mohammed Shahab UddinDOI: 10.12659/AJCR.952024
Am J Case Rep 2026; 27:e952024
Figure 4 Clinical timeline of evaluation and managementSchematic timeline summarizing key diagnostic and therapeutic milestones in a late-preterm neonate with day-1-onset transfusion-dependent thrombocytopenia and intermittent normocytic anemia. NAIT was initially suspected and managed empirically with intravenous immunoglobulin while maternal anti–human platelet antigen (HPA) antibody testing was pending; subsequent negative results and absent platelet response reduced the likelihood of an alloimmune mechanism. Bone marrow examination demonstrated dysmegakaryopoiesis with reduced late megakaryocyte forms, followed by a trial of romiplostim without sustained platelet response. Trio-based sequencing with copy-number analysis identified a homozygous in-frame duplication in NFE2. The timeline also indicates the longitudinal course through January 2025, during which thrombocytopenia remained persistent with ongoing transfusion dependence.






