# Unmasking the mimic: vertebral alveolar echinococcosis diagnosed by metagenomic next-generation sequencing

## TL;DR

A Siberian woman's chronic back pain was misdiagnosed as tuberculosis but was later correctly identified as a rare parasitic infection using advanced sequencing.

## Contribution

The study demonstrates the use of metagenomic next-generation sequencing to diagnose a rare parasitic disease and identifies a novel variant.

## Key findings

- Metagenomic sequencing confirmed vertebral alveolar echinococcosis after initial misdiagnosis.
- Haplotype analysis identified a novel Asian-cluster variant of the parasite.
- The findings support the patient's presumed origin of infection.

## Abstract

A Siberian woman in her forties presented to a public hospital in northeastern Germany with chronic back pain and a paravertebral mass, initially misdiagnosed as spinal tuberculosis. Repeated biopsies and metagenomic next-generation sequencing (mNGS) ultimately confirmed vertebral alveolar echinococcosis. Haplotype analysis revealed a novel Asian-cluster variant, supporting the presumed origin of infection.