Leonor Castro, A. C. Ferreira, Á. Cohen, Israel Macedo, T. Tomé
{"title":"Preterm twins with antenatal presentation of Pearson syndrome","authors":"Leonor Castro, A. C. Ferreira, Á. Cohen, Israel Macedo, T. Tomé","doi":"10.1515/crpm-2021-0083","DOIUrl":null,"url":null,"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.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"4 1","pages":""},"PeriodicalIF":0.1000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Perinatal Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1515/crpm-2021-0083","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍：
Case Reports in Perinatal Medicine is a double-blind peer-reviewed journal. The objective of the new journal is very similar to that of JPM. In addition to evidence-based studies, practitioners in clinical practice esteem especially exemplary reports of cases that reveal specific manifestations of diseases, its progress or its treatment. We consider case reports and series to be brief reports describing an isolated clinical case or a small number of cases. They may describe new or uncommon diagnoses, unusual outcomes or prognosis, new or infrequently used therapies and side effects of therapy not usually discovered in clinical trials. They represent the basic concept of experiences for studies on representative groups for further evidence-based research. The potential roles of case reports and case series are: Recognition and description of new diseases Detection of drug side effects (adverse or beneficial) Study of mechanisms of disease Medical education and audit Recognition of rare manifestations of disease.
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