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November 30, 2025MedicineOpen Access

Bone-in-bone and sandwich vertebrae in a 6-month-old infant with genetically confirmed fatal osteopetrosis: A case report

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Case report reveals osteopetrosis in a 6-month-old with hemoglobin decline, highlighting diagnostic radiographic value.

The patient with osteopetrosis presented with hepatosplenomegaly and increased intracranial pressure, leading to fatal outcomes.
Initial laboratory findings indicated low hemoglobin and elevated C-reactive protein, signaling severe conditions.
X-ray radiographs demonstrated the characteristic bone-in-bone and sandwich vertebrae features of osteopetrosis, guiding the diagnosis.
Prompt intervention with hematopoietic stem cell transplantation could potentially improve survival, indicating the need for timely treatment.

Hou et al. (2025) studied this question.

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