Work

Bloom Syndrome Presenting With Early‐Onset Myelodysplastic Syndrome and Triple Overlapping Vascular Neurocutaneous Phenotypes: A Case Report

Year: 2026

Type: article

Abstract: Bloom syndrome is a rare autosomal recessive chromosomal instability disorder characterized by growth deficiency and early-onset malignancies, and its coexistence with multiple vascular neurocutaneous syndromes is exceptionally uncommon. We report an 8-year-old girl who presented with severe growth failure and persistent pancytopenia. Bone marrow examination showed hypocellularity with monosomy 7, consistent with myelodysplastic neoplasm, and molecular analysis identified a homozygous pathogenic BLM variant (NM_000057.4:c.796C>T; p.Arg266Ter). Clinically, she exhibited overlapping neurocutaneous features within the spectrum of Sturge-Weber syndrome, Klippel-Trénaunay syndrome, and phakomatosis pigmentovascularis. The course was complicated by severe sepsis, leading to death before hematopoietic stem cell transplantation could be performed. This case highlights the importance of considering inherited cancer predisposition syndromes in children with cytopenia, growth failure, and complex neurocutaneous phenotypes.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.73007

Authors: Elham Shahgholi, Nahid Khosroshahi, Sara Sadeghi

Institutions: Bahrami Hospital, Tehran University of Medical Sciences, Iran University of Medical Sciences

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820