A newborn with multiple fractures as first presentation of infantile myofibromatosis

P S Buonuomo1, A Ruggiero, G Zampino

  • 1Division of Pediatric Oncology, Department of Paediatrics, Università Cattolica del Sacro Cuore, Policlinico A Gemelli, Largo A. Gemelli 8, 00168 Rome, Italy.

Insights

Pathological fractures are rare in newborns. This case highlights infantile myofibromatosis as a cause of neonatal femur fractures and lytic bone lesions.

Area of Science:

  • Pediatric Orthopedics
  • Pediatric Radiology
  • Pediatric Pathology

Background:

  • Pathological fractures in infancy are uncommon, with even rarer occurrences during the neonatal period.
  • Differential diagnosis for neonatal fractures includes trauma, metabolic bone disease, and genetic disorders.
  • Infantile myofibromatosis is a rare benign soft tissue tumor that can involve bone.

Observation:

  • A male newborn presented with a fracture of the femur metaphysis.
  • Radiographic imaging revealed multiple lytic lesions throughout the bone.
  • Clinical presentation suggested a pathological process rather than simple trauma.

Findings:

  • The diagnosis of infantile myofibromatosis was confirmed.
  • This condition, though rare, can manifest with significant skeletal involvement in neonates.
  • The combination of metaphyseal fracture and lytic lesions in a neonate is a key diagnostic feature.

Implications:

  • Highlights the importance of considering rare conditions like infantile myofibromatosis in neonatal fractures with atypical features.
  • Suggests the need for advanced imaging and potentially biopsy for definitive diagnosis.
  • Informs pediatricians and orthopedic surgeons about a rare cause of neonatal bone pathology.