# Osteoporotic Burst Fracture in a Young Male Adult as First Presentation of a Rare PLS3 Mutation: A Case Report

## TL;DR

A young man with a rare PLS3 gene mutation experienced a spinal fracture from low-energy trauma, highlighting the need for genetic testing in similar cases.

## Contribution

This case report presents a rare PLS3 mutation as a cause of osteoporotic burst fracture in a young adult.

## Key findings

- A burst fracture in a young male occurred due to low-energy trauma, not high-impact injury.
- A rare PLS3 gene mutation was identified as the underlying cause of poor bone quality.
- Teriparatide therapy was initiated following the diagnosis of osteoporosis.

## Abstract

Low-impact spinal fractures in young patients are rare and should raise suspicion of an underlying condition, as these injuries are typically the result of high-energy trauma. We describe a case of a young male patient who sustained a burst fracture of the first lumbar vertebra (L1) following low-energy trauma. The patient underwent percutaneous posterior spinal instrumentation, yet the poor bone quality detected intraoperatively prompted further diagnostic evaluation. Subsequently, low bone mineral density (BMD) was detected, and a rare plastine-3 (PLS3) gene mutation was revealed in the genetic analysis. The patient was initiated on teriparatide therapy after the discovery of osteoporosis postoperatively. It is, therefore, imperative to investigate all young patients with low-energy spinal fractures preoperatively to discover the underlying pathology promptly.