# Congenital pseudarthrosis of the proximal tibia: a case report

**Authors:** Jiewei Weng, Jiaqi Wang, Tianyou Li

PMC · DOI: 10.3389/fped.2026.1768501 · Frontiers in Pediatrics · 2026-01-30

## TL;DR

A rare case of congenital pseudarthrosis in the proximal tibia of a child with neurofibromatosis type 1 is reported, along with treatment and proposed formation mechanism.

## Contribution

This case report provides clinical insights and a hypothesis on the formation mechanism of a rare proximal tibial CPT.

## Key findings

- Proximal tibial CPT combined with tibial dysplasia was successfully treated with resection, bone grafting, and internal fixation.
- Hemiepiphysiodesis corrected the associated genu valgus deformity after initial union.
- The case supports standardized diagnosis and management approaches for CPT.

## Abstract

Congenital pseudarthrosis of the tibia (CPT) is a rare and challenging pediatric orthopedic disorder that predominantly affects the distal or middle third of the tibia, with involvement of the proximal third being exceedingly rare. Literature on this condition remains limited. This case presents proximal tibial CPT with proximal tibial dysplasia in a 7-year-old male patient with neurofibromatosis type 1. Based on the fundamental treatment principles of CPT, the child underwent pseudarthrosis resection, bone grafting, and internal fixation with a Rush rod combined with a plate. Following the achievement of initial successful union, hemiepiphysiodesis was employed to correct the genu valgus deformity. This case report proposes a hypothesis regarding the formation mechanism of proximal tibial CPT and provides clinical support for the standardized diagnosis and management of CPT.

## Linked entities

- **Diseases:** congenital pseudarthrosis of the tibia (MONDO:0017462), neurofibromatosis type 1 (MONDO:0018975)

## Full-text entities

- **Genes:** NF1 (neurofibromin 1) [NCBI Gene 4763] {aka NFNS, VRNF, WSS}
- **Diseases:** CPT (MESH:D011542), tibia (MESH:C535563), proximal tibial dysplasia (MESH:C537133), orthopedic disorder (MESH:D009140), genu valgus deformity (MESH:D060906)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12901420/full.md

## References

21 references — full list in the complete paper: https://tomesphere.com/paper/PMC12901420/full.md

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Source: https://tomesphere.com/paper/PMC12901420