What is the Differential Diagnosis of Multiple Fractures?

Patient Presentation
A 16-year-old female came to clinic after she had been running during volleyball practice the previous evening. She had a sudden pain in her left foot, and stopped running, but continued with practice. The pain worsened over the practice, but got better with rest.
She denied any other trauma. Her diet was good including daily calcium intake.
The past medical history showed 2 previous fractures. A patellar avulsion while practicing high jumping and a proximal humerus fracture when she got tangled in a net while playing tennis.
The family history was negative for any genetic abnormalities, bone, kidney or endocrinopathies.
The review of systems was negative.

The pertinent physical exam showed a healthy appearing female with normal growth parameters.
Her left foot had mild bruising around the 5th metatarsal tuberosity. She had pain with pressure in this area.
The radiologic evaluation showed a fracture of the 5th metatarsal.
She was placed into a pneumatic walking boot and followed by orthopaedics with resolution.
Her primary pediatrician was concerned about the multiple fractures with relatively little trauma for two of them, and discussed this with a sports medicine specialist who suggested a DXA scan (dual-energy x-ray absorpiometry).
The DXA scan was negative along with a Vitamin D level and so the patient had no further evaluations and was followed.

Case Image
Figure 102 – Oblique radiograph of the left foot showing that the apophysis that is lateral to the base of the fifth metatarsal is abnormally fragmented in appearance and as this was the site of the patient’s pain, the apophysis was felt to be fractured.

Discussion
Bone mass, size and strength is at its peak in early adulthood.
Multiple factors contribute to bone health including bone mass, hormonal balance, nutrition and weight bearing physical activity.
Fractures are basically caused by too much force to be withstood by the bone. Abnormal momentary forces commonly occur in sports injuries such as this patient.

When a child or young adult has several fractures, particularly clinically significant fractures, the possibility of an unidentified, underlying cause should be considered.
According to the International Society for Clinical Densitometry, clinically significant fractures that clinicians should consider for a DXA scan includes fracture of long bones in the lower extremities, vertebral compression fractures, or two or more long-bone fractures of the upper extremities.

Learning Point
The differential diagnosis of multiple fractures includes:

  • Child maltreatment
  • Copper deficiency – acquired, Menkes disease
  • Ehler-Danlos
  • Neurofibromatosis type 1
  • Osteogenesis imperfecta
  • Osteopenia (an expanded differential diagnosis can be found here.)
    • Paralysis
    • Prematurity
    • Medication – corticosteroids
  • Osteopetrosis
  • Rickets – Vitamin D deficiency
  • Mimics
    • Bone dysplasias – Raine syndrome, McCune Albright
    • Periosteal reactions – Vitamin A toxicity, prostaglandin, osteomyelitis, syphilis

Questions for Further Discussion
1. What further evaluation should be done for a patient with an abnormal DXA scan?
2. What are indications for referral to a sports medicine specialist?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Fractures

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

Jenny, C. for the Committee on Child Abuse and Neglect. Evaluating Infants and Young Children With Multiple Fractures. Pediatrics. 2006:113(3);1299-1303.

Mughal MZ. Miscellaneous bone disorders. Endocr Dev. 2009;16:191-217.

Egge MK, Berkowitz CD. Controversies in the evaluation of young children with fractures. Adv Pediatr. 2010;57(1):63-83.

Online Mendelian Inheritance in Man. Neurofibromatosis, Type 1; NF1. John’s Hopkins University.
Available from the Internet at http://www.omim.org/entry/162200 (rev. 3/18/2012, cited 1/15/2012).

ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

  • Interpersonal and Communication Skills
    19. The health professional works effectively with others as a member or leader of a health care team or other professional group.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital