Abstract
Abstract 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.
Highlights
Pearson syndrome (PS) is a rare multisystem mitochondrial disorder that was first described in 1979 by Pearson et al It is caused by a large-scale mitochondrial DNA deletion that causes defective oxidative phosphorylation and usually presents within the first year of life [1,2,3] with varying multisystem dysfunction, including the classically describedFetal presentation of PS is extremely rare – to our knowledge there are only three reported cases [3, 6]
Pearson syndrome is a mitochondrial cytopathy with multisystemic involvement that typically presents in infancy and has poor prognosis
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
Summary
Pearson syndrome (PS) is a rare multisystem mitochondrial disorder that was first described in 1979 by Pearson et al It is caused by a large-scale mitochondrial DNA deletion that causes defective oxidative phosphorylation and usually presents within the first year of life [1,2,3] with varying multisystem dysfunction, including the classically described. Fetal presentation of PS is extremely rare – to our knowledge there are only three reported cases [3, 6].
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