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.

Objekt anzeigen

• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch

Verweise und Beziehungen

• Erschienen in: Preterm twins with antenatal presentation of Pearson syndrome ; volume:11 ; number:1 ; year:2022 ; extent:04 ; Case reports in perinatal medicine ; 11, Heft 1 (2022) (gesamt 04)

Beteiligte, Orts- und Zeitangaben

• Urheber: Castro, Leonor ; Ferreira, Ana C. ; Cohen, Álvaro ; Macedo, Israel J. ; Tomé, Teresa

Weitere Informationen

• DOI: 10.1515/crpm-2021-0083
• URN: urn:nbn:de:101:1-2022071514302664231055
• Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.