Osteopetrosis Revealed by Pseudarthrosis of a Neglected Subtrochanteric Fracture in an Adult: Case Report

Clinical Image

Austin Orthop. 2023; 7(1): 1022.

Osteopetrosis Revealed by Pseudarthrosis of a Neglected Subtrochanteric Fracture in an Adult: Case Report

Yassine Ben Bouzid*; Marouane Dinia; Rida-Allah Bassir; Monsef Boufettal; Jalal Mekkaoui; Mohamed Kharmaz; Moulay Omar Lamrani; Mohamed Saleh Berrada

Department of Orthopaedic and Trauma Surgery, Ibn Sina University Hospital, Rabat, Morocco

*Corresponding author: Yassine Ben Bouzid Department of Orthopaedic and Trauma Surgery, Ibn Sina University Hospital, Rabat, Morocco. Email: yassine.benbouzid2@gmail.com

Received: March 21, 2023 Accepted: April 27, 2023 Published: May 04, 2023

Introduction

First described in 1904, Osteopetrosis (OP) is a rare genetic disorder [1] affecting osteoclast activity resulting in decreased bone resorption and bone densification [2]. There are three types of osteopetrosis depending on the world of transmission: autosomal dominant OP, autosomal recessive OP, and intermediate autosomal OP [3]. Indeed, osteopetrosis is characterized by a hard but fragile bone with a narrow or absent medullary canal [4]. Consequently, the bone is so dense and fragile that it is subject to an increased risk of fractures and complications during surgery, which is why patients with OP are treated conservatively [5]. Furthermore, due to poor blood supply, patients with osteopetrosis have a high risk of infection and osteomyelitis, in addition to the risk of pseudarthrosis [6].

Clinical Image

A 23-year-old patient consulted for chronic intermittent pain with limited mobility of the left hip and shortening of the left lower limb. On history, the patient reported a fall on the pelvis 2 years earlier, which caused acute pain in the left hip that later, became chronic and intermittent. The patient had not initially consulted. There was no history of anemia, fractures or recurrent infection. However, the patient reported a family history of bone disease without genetic evidence. The physical examination found a left lower limb shortened by 2cm; the mobility of the left hip was painless but limited, in particular abduction which was limited to 10°. We did not notice any pain on palpation or mobilization. Walking was possible but with a limp secondary to the shortening of the limb. The systemic examination did not reveal any other abnormalities. Biologically, there was no anemia, phosphocalcic abnormality, or alteration of renal function. Radiographically, there was a displaced left subtrochanteric fracture with an absent medullary canal and diffuse densification of the bone. The patient refused to undergo genetic testing. The diagnosis of late osteopetrosis with pseudarthrosis of a neglected subtrochanteric fracture was made. The patient underwent surgical management with open reduction and locked plate osteosynthesis.

Citation: Bouzid YB; Dinia M; Bassir RA; Boufettal M; Mekkaoui J, et al. Osteopetrosis Revealed by Pseudarthrosis of a Neglected Subtrochanteric Fracture in an Adult: Case Report. Austin Orthop. 2023; 7(1): 1022.