Medicine · 2025
Bone-in-bone and sandwich vertebrae in a 6-month-old infant with genetically confirmed fatal osteopetrosis: A case report.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Hou Fang, Zhang Junyan
Аннотация
RATIONALE: Autosomal recessive osteopetrosis (ARO) is a subtype of osteopetrosis that is often fatal and typically manifests in infancy with life-threatening complications. This report describes a genetically confirmed case of ARO with characteristic radiographic features and a fatal outcome, highlighting the diagnostic value of X-ray radiographs in early recognition of the disease.
PATIENT CONCERNS: A 6-month-old female presented with high fever, poor responsiveness, and decreased appetite. Physical examination revealed a bulging anterior fontanel, hepatosplenomegaly (3 cm below the costal margin), and bilateral Babinski signs.
DIAGNOSES: Laboratory tests showed progressive anemia (hemoglobin 94 g/L), thrombocytopenia (platelet count 52 × 109/L), and elevated C-reactive protein (11.9 mg/L). Images demonstrated thickened cranial bones with features suggestive of increased intracranial pressure. X-rays revealed classical "sandwich vertebrae" and "bone-in-bone" appearances in the spine and long bones. Genetic testing identified compound heterozygous mutations in the TCIRG1 gene: c.1216G>T:p.D406Y (paternal origin) and c.1384_1386del:p.N462del (maternal origin), confirming the diagnosis of ARO type 1 (OMIM #259700).
INTERVENTIONS: Supportive and anti-infective treatments were administered. Hematopoietic stem cell transplantation was not performed due to financial constraints.
OUTCOMES: The patient died of marrow failure and infection.
LESSONS: Plain X-ray radiographs have crucial diagnostic value for early identification of ARO in infants. Because computed tomography entails high radiation exposure and is not suitable for infants, X-ray remains the preferred initial imaging modality. Prompt genetic testing and timely hematopoietic stem cell transplantation are essential for improving outcomes in this otherwise fatal disorder.
PATIENT CONCERNS: A 6-month-old female presented with high fever, poor responsiveness, and decreased appetite. Physical examination revealed a bulging anterior fontanel, hepatosplenomegaly (3 cm below the costal margin), and bilateral Babinski signs.
DIAGNOSES: Laboratory tests showed progressive anemia (hemoglobin 94 g/L), thrombocytopenia (platelet count 52 × 109/L), and elevated C-reactive protein (11.9 mg/L). Images demonstrated thickened cranial bones with features suggestive of increased intracranial pressure. X-rays revealed classical "sandwich vertebrae" and "bone-in-bone" appearances in the spine and long bones. Genetic testing identified compound heterozygous mutations in the TCIRG1 gene: c.1216G>T:p.D406Y (paternal origin) and c.1384_1386del:p.N462del (maternal origin), confirming the diagnosis of ARO type 1 (OMIM #259700).
INTERVENTIONS: Supportive and anti-infective treatments were administered. Hematopoietic stem cell transplantation was not performed due to financial constraints.
OUTCOMES: The patient died of marrow failure and infection.
LESSONS: Plain X-ray radiographs have crucial diagnostic value for early identification of ARO in infants. Because computed tomography entails high radiation exposure and is not suitable for infants, X-ray remains the preferred initial imaging modality. Prompt genetic testing and timely hematopoietic stem cell transplantation are essential for improving outcomes in this otherwise fatal disorder.