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Leg pain in an infant

Jennifer T Haile1, Vanessa G Carroll, Russell W Steele

  • 1Tulane University School of Medicine, New Orleans, LA, USA.

Clinical Pediatrics
|December 26, 2009
PubMed

Insights

Differentiating nonaccidental trauma from osteogenesis imperfecta (OI) is challenging with multiple fractures. Genetic testing revealed a COL1A1 gene mutation, confirming OI type I in an infant with multiple fractures.

Area of Science:

  • Pediatric Orthopedics
  • Medical Genetics

Background:

  • Distinguishing nonaccidental trauma from underlying medical conditions like osteogenesis imperfecta (OI) is critical in pediatric fracture cases.
  • Multiple fractures in infants raise concerns for both trauma and metabolic bone diseases, necessitating a thorough differential diagnosis.

Observation:

  • An 11-month-old infant presented with a femur fracture, alongside evidence of healing humeral and rib fractures.
  • Comprehensive metabolic workup, including urine organic acids, serum amino acids, and vitamin D levels, was performed.
  • Genetic sequencing targeted COL1A1 and COL1A2 genes to investigate potential inherited bone disorders.

Findings:

  • Genetic analysis identified a mutation in the COL1A1 gene.
  • This mutation is consistent with a diagnosis of osteogenesis imperfecta type I.
  • The diagnostic process successfully ruled out nonaccidental trauma as the sole cause of the fractures.

Implications:

  • This case highlights the importance of genetic testing in evaluating pediatric fractures, especially with multiple fracture patterns.
  • Accurate diagnosis of OI is crucial for appropriate management, genetic counseling, and preventing misdiagnosis of abuse.
  • Understanding the genetic basis of OI aids in predicting disease severity and long-term prognosis.

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