Inherited bone marrow failure with ERCC6L2 gene mutation: presentation of aplastic anemia in a 3-year-old child: a case report

BACKGROUND: Aplastic anemia is a rare hematologic disorder characterized by bone marrow hypoplasia and peripheral pancytopenia. While most pediatric cases are acquired, inherited bone marrow failure syndromes (IBMFS) are important differential diagnoses. ERCC6L2-associated IBMFS is a newly recognized and rare condition with significant implications for diagnosis and long-term care in hematology. CASE PRESENTATION: A case report of a 3-year-old Ethiopian girl presenting with dry cough, low-grade fever, poor appetite, and spontaneous gum bleeding. Examination revealed microcephaly, café-au-lait spots, and dysmorphic facial features. Laboratory evaluation revealed pancytopenia. Bone marrow biopsy revealed hypocellularity without blasts. Whole-exome sequencing revealed compound heterozygous variants in the ERCC6L2 gene, confirming a diagnosis of ERCC6L2-related IBMFS. The patient is currently scheduled for allogeneic hematopoietic stem cell transplantation. CONCLUSION: This case report highlights the importance of considering rare genetic causes, such as ERCC6L2 mutations, in pediatric aplastic anemia patients with dysmorphic features. Early diagnosis through genetic testing allows for definitive management and surveillance of hematologic malignancies.