Kongenitale Pseudarthrose der Tibia

Congenital pseudoarthrosis of the tibia describes abnormal bowing that can progress to a segment of bone loss simulating the appearance of a joint. The condition is usually apparent shortly after birth and is rarely diagnosed after the age of two.

Pathology

The etiology is unclear, however, around 50% of cases are associated with neurofibromatosis type 1 (NF1). Overall, 10% of patients with NF1 are diagnosed with tibial pseudoarthrosis.

Fibular, ulnar, and radial pseudoarthroses can also occur, but much less frequently, and usually only in patients with NF1.

Radiographic features

• progressive bowing (usually anterolateral in the tibia)
• resorption of a short segment of bone
  • usually at the site of maximal bowing
  • usually between mid and distal one-third of the shaft
• angulation at the site of absent bone segment
• often mimics the appearance of a joint
  • cupping of the bone proximal to the absent section
  • sharpened narrow appearance of the distal bone
• often fracture or bowing of accompanying bone (fibula with tibia, radius with ulna)

Siehe auch:

• Neurofibromatose Typ 1
• Neurofibromatose
• kongenitale Pseudarthrose
• Tibia recurvata
• kongenitale Ulnapseudarthrose
• Neurofibromatose Typ 1 und Pseudarthrose der Ulna

und weiter:

• Pseudarthrose
• congenital pseudoarthrosis
• radial pseudoarthrosis (congenital)
• kongenitale Pseudarthrose der Fibula