# Preterm twins with antenatal presentation of Pearson syndrome

## TL;DR

This paper reports a rare case of Pearson syndrome presenting in preterm twins before birth, highlighting its unusual antenatal appearance.

## Contribution

The novelty lies in the antenatal presentation of Pearson syndrome in preterm monochorionic twins.

## Key findings

- Preterm monochorionic twins showed transfusion-dependent fetal anemia.
- Post-natal multisystem dysfunction confirmed the diagnosis of Pearson syndrome.
- Pearson syndrome can present antenatally, suggesting it should be considered in unexplained fetal anemia.

## Abstract

Pearson syndrome is a mitochondrial cytopathy with multisystemic involvement that typically presents in infancy and has poor prognosis. We aim to present a case that is distinct due to the timing of presentation and associated anomalies.

We report the case of preterm monochorionic twins with transfusion dependent fetal anemia that had post-natal multisystem dysfunction which led to the diagnosis of Pearson syndrome.

This case highlights the possibility of antenatal presentation of Pearson syndrome, which should be considered in cases of severe fetal anemia without an apparent cause.