Clinical features, genetic analysis, and efficacy evaluation of hematopoietic stem cell transplantation in a case of osteopetrosis caused by compound heterozygous variations in the TNFRSF11A gene: a case study.
Xiaoyun Dong, Jiping Lv, Hui Dong et al.
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Case in brief
A three-year-old Chinese girl with osteopetrosis presented with recurrent fractures, short stature, and macrocephaly. Radiological findings showed elevated bone mineral density and constricted medullary spaces. Genetic analysis revealed compound heterozygous mutations in the TNFRSF11A gene. Following haploidentical hematopoietic stem cell transplantation from her father, the patient demonstrated improved growth, resolved anemia, and alleviated optic foramen stenosis.
Diagnostic / clinical pearl
This case underscores the importance of early genetic diagnosis in osteopetrosis, which can guide timely interventions such as hematopoietic stem cell transplantation.
Why it matters
The findings suggest that HSCT may be an effective treatment for TNFRSF11A-related osteopetrosis, highlighting the need for further research to optimize management strategies for this rare condition.