Preterm twins with antenatal presentation of Pearson syndrome-Reference-Cited by-同舟云学术

Preterm twins with antenatal presentation of Pearson syndrome

Published:2022-01-01 Issue:1 Volume:11 Page:
ISSN:2192-8959
Container-title:Case Reports in Perinatal Medicine
language:en
Short-container-title:

Author:

Castro Leonor¹^ORCID,Ferreira Ana C.²,Cohen Álvaro³,Macedo Israel J.⁴,Tomé Teresa⁴

Affiliation:

1. Pediatric and Neonatal Intensive Care Unit, Hospital Central do Funchal , Av. Luís de Camões, nº 57 – 9004-514 Funchal , Madeira , Portugal

2. Metabolic Diseases Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central , Lisboa , Portugal

3. Prenatal Diagnosis Unit, Maternidade Dr. Alfredo da Costa, Centro Hospitalar Universitário de Lisboa Central , Lisboa , Portugal

4. Neonatal Intensive Care Unit, Maternidade Dr. Alfredo da Costa, Centro Hospitalar Universitário de Lisboa Central , Lisboa , Portugal

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.

Publisher

Walter de Gruyter GmbH

Subject

Obstetrics and Gynecology,Embryology,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/crpm-2021-0083/pdf

Reference18 articles.

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2. Reddy, J, Jose, J, Prakash, A, Devi, S. Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis. Sudan J Paediatr 2019;19:161–4. https://doi.org/10.24911/SJP.106-1534158413.

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