Case of the Day(sm)

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Baby with abnormal physical exam.

Our appreciation is extended to Dr. Mark Dalesandro,
Indiana University Department of Radiology,
for contributing this case.

History: Baby with abnormal physical exam.

Review the images below. Please respond to the following with TRUE or FALSE.

There is abnormal bowing of the tibia

True or False

There is abnormal mineralization of the tibia

True or False

There is an acute fracture of the fibula

True or False

There are metaphyseal corner fractures

True or False

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Case of the Day(sm)

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Baby with abnormal physical exam.

Same images are again shown below. Which single choice most likely characterizes the salient findings?

Non-accidental trauma.Metabolic bone disease.Vitamin deficiency.Phacomatosis.Osteogenesis imperfecta.

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Case of the Day(sm)

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Baby with abnormal physical exam.

The x-rays were determined to be stable since prior. This patient actually has a known underlying diagnosis. Can you select it?

Neurofibromatosis.Blount's disease.Von-Hippel-Lindau disease.Tuberous sclerosis.Sturge-Weber syndrome.

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Case of the Day(sm)

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Baby with abnormal physical exam.

Findings: Severe anterolateral bowing of the tibia. Fibular pseudarthrosis with areas of sclerotic and cystic change in the distal fibular diaphysis. Both findings unchanged from prior exam.

Differential diagnosis for bowing of the tibia:

Pseudarthrosis of tibia (Neurofibromatosis)
Fibular hemimelia
Blount disease
Rickets
Physiologic
Osteogenesis Imperfecta

Diagnosis: Neurofibromatosis-related pseudoarthrosis

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Case of the Day(sm)

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Baby with abnormal physical exam.

Key points:

NF-associated pseudarthrosis is more often seen in the tibia rather than the fibula.
NF-associated bowing is almost always anterolateral
Congenital pseudarthrosis of tibia is associated with neurofibromatosis in 50 percent of cases.
There are several classification schemes, but the appearance of the pseudarthrosis changes in most cases. The classification has little, if any, effect on management.
Predominantly unilateral. Predominantly in the middle or distal third of the tibia.
Abnormal bone which has no bony healing reaction in response to the nonunion of pseudoarthrosis. Resection of the lesion +/- fibular grafting is needed for union. IM rods for stabilization
If tibial bowing is present in NF, 26 – 36 % chance of fibular changes at some point.

References:

Congenital pseudarthrosis of the tibia: history, etiology, classification, and epidemiologic data. Hefti F, et al. J Pediatr Orthop B, 2000 Jan;9(1):11-5.
Radiographic characteristics of lower-extremity bowing in children. Cheema J et al. RadioGraphics 2003; 23:871-880.
Neurofibromatosis Update. Crawford A, Schorry E. J Pediatr Orthop 2006;26:413-423.

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