Preterm twins with antenatal presentation of Pearson syndrome

Objectives: 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. Case presentation: 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. Conclusions: 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.