Bilateral congenital pseudarthrosis of the tibia with neurofibromatosis type 1

Ari B., Kuyubasi S. N.

Journal of the Pakistan Medical Association, vol.71, no.5, pp.1499-1502, 2021 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 71 Issue: 5
  • Publication Date: 2021
  • Doi Number: 10.47391/jpma.504
  • Journal Name: Journal of the Pakistan Medical Association
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.1499-1502
  • Keywords: Congenital pseudarthrosis of the tibia, Neurofibromatosis type 1, Patients
  • Kütahya Health Sciences University Affiliated: Yes

Abstract

Neurofibromatosis type 1 is an autosomal dominant, common genetic disorder that affects many systems, including the skeleton and neurocutaneous system. Skeletal involvement is seen in 38% of patients with NF1. Bowing deformity and pseudarthrosis are observed in 5.7% of the long bones, most of which are common in the tibia. A 13-year-old Somalian girl visited our orthopaedic clinic with complaints of deformity, inability to walk and pain in both legs. The deformity in both legs was present at birth and progressed further. A pathological fracture in the right tibia and a wide range of pseudarthrosis, hamartomatous bone tissues, medullary canal and diaphyseal narrowing towards the pseudoarthrosis range and cortical thickening were observed on her radiographs. Ilizarov technique was used for the case in this study.