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19 May 2026 : Case report  Saudi Arabia

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 Uddin ORCID logo ABCDEF 1,2,3*, Maan Albehair ORCID logo BFG 4,2,3, Fayez Nashi Motlaq Alshammari ORCID logo BFG 4,2,3, Amr Esmail BFG 4,2,3, Khaled Shafeen ORCID logo BFG 5, Abdullah Bin Hassan ORCID logo BEG 4,2,3, Hana Bawazier ACE 4,2,3

DOI: 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.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923