Pearson Syndrome : Spontaneously Recovering Anemia and Hypoparathyroidism
Pearson syndrome is a genetic disorder caused by mutations in the mitochondrial genome, characterized by failure to thrive with hematological and gastrointestinal abnormalities. Individuals with Pearson syndrome may develop the symptoms and signs of Kearns-Sayre syndrome with multisystem involvement. Spontaneous recovery of hematological problems is reported as is the situation in the present case. The child reported here was born out of in-vitro fertilization. She was maintaining normal hemoglobin level for more than three and a half years but had been detected to have hypoparathyroidism. The diagnosis of Pearson syndrome was confirmed by presence of deletion in mitochondrial genome. Awareness about this rare disorder will help clinicians to broaden their differentials when dealing with common presentations like failure to thrive and anemia.
Errataetall: |
CommentIn: Indian J Pediatr. 2021 Feb;88(2):209-210. - PMID 32767196 |
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Medienart: |
E-Artikel |
Erscheinungsjahr: |
2020 |
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Erschienen: |
2020 |
Enthalten in: |
Zur Gesamtaufnahme - volume:87 |
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Enthalten in: |
Indian journal of pediatrics - 87(2020), 12 vom: 14. Dez., Seite 1070-1072 |
Sprache: |
Englisch |
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Beteiligte Personen: |
Nilay, Mayank [VerfasserIn] |
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Links: |
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Themen: |
Case Reports |
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Anmerkungen: |
Date Completed 24.03.2021 Date Revised 24.05.2021 published: Print-Electronic CommentIn: Indian J Pediatr. 2021 Feb;88(2):209-210. - PMID 32767196 Citation Status MEDLINE |
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doi: |
10.1007/s12098-020-03333-9 |
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funding: |
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PPN (Katalog-ID): |
NLM311168108 |
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520 | |a Pearson syndrome is a genetic disorder caused by mutations in the mitochondrial genome, characterized by failure to thrive with hematological and gastrointestinal abnormalities. Individuals with Pearson syndrome may develop the symptoms and signs of Kearns-Sayre syndrome with multisystem involvement. Spontaneous recovery of hematological problems is reported as is the situation in the present case. The child reported here was born out of in-vitro fertilization. She was maintaining normal hemoglobin level for more than three and a half years but had been detected to have hypoparathyroidism. The diagnosis of Pearson syndrome was confirmed by presence of deletion in mitochondrial genome. Awareness about this rare disorder will help clinicians to broaden their differentials when dealing with common presentations like failure to thrive and anemia | ||
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