Extremely Rare Case of Fetal Anemia Due to Mitochondrial Disease Managed with Intrauterine Transfusion

This report describes a rare case of fetal anemia, confirmed as a mitochondrial disease after birth, treated with intrauterine transfusion (IUT). Although mitochondrial diseases have been described in newborns, research on their prenatal features is lacking. A patient was referred to our institution...

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Main Authors: Jinha Chung, Mi-Young Lee, Jin-Hoon Chung, Hye-Sung Won
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:Medicina
Subjects:
Online Access:https://www.mdpi.com/1648-9144/58/3/328
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author Jinha Chung
Mi-Young Lee
Jin-Hoon Chung
Hye-Sung Won
author_facet Jinha Chung
Mi-Young Lee
Jin-Hoon Chung
Hye-Sung Won
author_sort Jinha Chung
collection DOAJ
description This report describes a rare case of fetal anemia, confirmed as a mitochondrial disease after birth, treated with intrauterine transfusion (IUT). Although mitochondrial diseases have been described in newborns, research on their prenatal features is lacking. A patient was referred to our institution at 32 gestational weeks owing to fetal hydrops. Fetal anemia was confirmed by cordocentesis. After IUT had been performed three times, the anemia and associated fetal hydrops showed improvement. However, after birth, the neonate had recurrent pancytopenia and lactic acidosis. He was eventually diagnosed with Pearson syndrome and died 2 months after birth. This is the first case report of fetal anemia associated with mitochondrial disease managed with IUT.
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spelling doaj.art-81d7eef98126451a92f6cd61ab83437a2023-11-30T21:25:23ZengMDPI AGMedicina1010-660X1648-91442022-02-0158332810.3390/medicina58030328Extremely Rare Case of Fetal Anemia Due to Mitochondrial Disease Managed with Intrauterine TransfusionJinha Chung0Mi-Young Lee1Jin-Hoon Chung2Hye-Sung Won3Department of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, KoreaDepartment of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, KoreaDepartment of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, KoreaDepartment of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, KoreaThis report describes a rare case of fetal anemia, confirmed as a mitochondrial disease after birth, treated with intrauterine transfusion (IUT). Although mitochondrial diseases have been described in newborns, research on their prenatal features is lacking. A patient was referred to our institution at 32 gestational weeks owing to fetal hydrops. Fetal anemia was confirmed by cordocentesis. After IUT had been performed three times, the anemia and associated fetal hydrops showed improvement. However, after birth, the neonate had recurrent pancytopenia and lactic acidosis. He was eventually diagnosed with Pearson syndrome and died 2 months after birth. This is the first case report of fetal anemia associated with mitochondrial disease managed with IUT.https://www.mdpi.com/1648-9144/58/3/328anemiablood transfusioncase reporthydrops fetalismitochondrial diseasesPearson syndrome
spellingShingle Jinha Chung
Mi-Young Lee
Jin-Hoon Chung
Hye-Sung Won
Extremely Rare Case of Fetal Anemia Due to Mitochondrial Disease Managed with Intrauterine Transfusion
Medicina
anemia
blood transfusion
case report
hydrops fetalis
mitochondrial diseases
Pearson syndrome
title Extremely Rare Case of Fetal Anemia Due to Mitochondrial Disease Managed with Intrauterine Transfusion
title_full Extremely Rare Case of Fetal Anemia Due to Mitochondrial Disease Managed with Intrauterine Transfusion
title_fullStr Extremely Rare Case of Fetal Anemia Due to Mitochondrial Disease Managed with Intrauterine Transfusion
title_full_unstemmed Extremely Rare Case of Fetal Anemia Due to Mitochondrial Disease Managed with Intrauterine Transfusion
title_short Extremely Rare Case of Fetal Anemia Due to Mitochondrial Disease Managed with Intrauterine Transfusion
title_sort extremely rare case of fetal anemia due to mitochondrial disease managed with intrauterine transfusion
topic anemia
blood transfusion
case report
hydrops fetalis
mitochondrial diseases
Pearson syndrome
url https://www.mdpi.com/1648-9144/58/3/328
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AT miyounglee extremelyrarecaseoffetalanemiaduetomitochondrialdiseasemanagedwithintrauterinetransfusion
AT jinhoonchung extremelyrarecaseoffetalanemiaduetomitochondrialdiseasemanagedwithintrauterinetransfusion
AT hyesungwon extremelyrarecaseoffetalanemiaduetomitochondrialdiseasemanagedwithintrauterinetransfusion