Evidence map›Paper›PMID 42374542›Full record

ArticleJournal of medical case reports2026

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

Anteneh Girma Mengistu, Yared Shiferaw Heyi, Nathanael Elias Temesgen, Selamawit Kassahun Aweke, Natnael Mathewos Assale, Hiwote Molla Tsega, Merahi Kefyalew Merahi

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Article in Journal of medical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

7 authors.

Anteneh Girma MengistuDepartment of Pediatrics, Addis Ababa University, College of Health Sciences, Tikur Anbessa Hospital, Addis Ababa, Ethiopia.
Yared Shiferaw HeyiDepartment of Pediatrics, Addis Ababa University, College of Health Sciences, Tikur Anbessa Hospital, Addis Ababa, Ethiopia.
Nathanael Elias TemesgenDepartment of Pediatrics, Addis Ababa University, College of Health Sciences, Tikur Anbessa Hospital, Addis Ababa, Ethiopia.
Selamawit Kassahun AwekeDepartment of Pediatrics, Addis Ababa University, College of Health Sciences, Tikur Anbessa Hospital, Addis Ababa, Ethiopia. selamawit.kassahun-ug@aau.edu.et.ORCID http://orcid.org/0009-0002-8212-7883
Natnael Mathewos AssaleDepartment of Pediatrics, Addis Ababa University, College of Health Sciences, Tikur Anbessa Hospital, Addis Ababa, Ethiopia.
Hiwote Molla TsegaDepartment of Pediatrics, Addis Ababa University, College of Health Sciences, Tikur Anbessa Hospital, Addis Ababa, Ethiopia.
Merahi Kefyalew MerahiDepartment of Pediatrics, Addis Ababa University, College of Health Sciences, Tikur Anbessa Hospital, Addis Ababa, Ethiopia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAplastic 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.

conclusionThis 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.

Indexed as

Anemia, AplasticDNA HelicasesBone MarrowBone Marrow Failure DisordersChild, PreschoolFemaleHumansMutationPancytopeniaDNA HelicasesERCC6L2 protein, humanAplastic anemiaCase reportERCC6L2Inherited bone marrow failure syndromePancytopeniaPediatric hematology

Identifiers

PMID42374542
PMCPMC13579715

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