Congenital pseudarthrosis of the tibia

Congenital pseudarthrosis of the tibia (CPT) is a rare paediatric disease presenting with a bowing deformity of the tibia at birth or within the first decade of life.[1] It is most commonly associated with Neurofibromatosis type 1 (NF-1).[2] For children with CPT, pathological fracture of the tibia eventually occurs, resulting in persistent nonunion of the fracture site. If left untreated, leg deformities, joint stiffness, leg-length discrepancy and pain will persist.[3] Diagnosis is done clinically and through X-ray imaging, with numerous classifications based on the severity of bowing and presence of fracture or intraosseous lesion.[4]

Pathogenesis of CPT remains unclear. Genetic factors may be related due to its association with NF-1, but does not completely explain the development and location of CPT. It is likely related to the involvement of pathological periosteum in the tibia, resulting in abnormal bone turnover.[1][5]

Treatment for CPT is through surgical correction, to limit the progression of deformity and to correct shortening of the affected limb. Prognosis of treatment depends on site and type of CPT, and there is a risk of recurrent fracture.[6][7]

About 1 in 150,000 births present with CPT, but aside from its association with NF-1, not much else is shown from epidemiological studies.[1][4]

X-ray image of congenital pseudarthrosis of the tibia with anterior fracture
  1. ^ a b c Cite error: The named reference :2 was invoked but never defined (see the help page).
  2. ^ Van Royen K, Brems H, Legius E, Lammens J, Laumen A (September 2016). "Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia". European Journal of Pediatrics. 175 (9): 1193–1198. doi:10.1007/s00431-016-2757-z. PMID 27519821.
  3. ^ Agrawal U, Tiwari V (2024). "Congenital Tibial Pseudarthrosis". StatPearls. Treasure Island (FL): StatPearls Publishing. PMID 35015468. Retrieved 2024-04-10.
  4. ^ a b Cite error: The named reference :4 was invoked but never defined (see the help page).
  5. ^ "Congenital Pseudarthrosis of the Tibia (CPT) | Pediatric Orthopaedic Society of North America (POSNA)". posna.org. Retrieved 2024-04-10.
  6. ^ Kesireddy N, Kheireldin RK, Lu A, Cooper J, Liu J, Ebraheim NA (November 2018). "Current treatment of congenital pseudarthrosis of the tibia: a systematic review and meta-analysis". Journal of Pediatric Orthopedics. Part B. 27 (6): 541–550. doi:10.1097/BPB.0000000000000524. PMID 29878977.
  7. ^ Paley D (April 2019). "Congenital pseudarthrosis of the tibia: biological and biomechanical considerations to achieve union and prevent refracture". Journal of Children's Orthopaedics. 13 (2): 120–133. doi:10.1302/1863-2548.13.180147. PMC 6442511. PMID 30996736.