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

Medienart:

E-Artikel

Erscheinungsjahr:

2020

Erschienen:

2020

Enthalten in:

Zur Gesamtaufnahme - volume:87

Enthalten in:

Indian journal of pediatrics - 87(2020), 12 vom: 14. Dez., Seite 1070-1072

Sprache:

Englisch

Beteiligte Personen:

Nilay, Mayank [VerfasserIn]
Phadke, Shubha R [VerfasserIn]

Links:

Volltext

Themen:

Case Reports
Failure to thrive
Hypoparathyroidism
Journal Article
Mitochondrial genome
Pearson syndrome
Sideroblastic anemia

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

doi:

10.1007/s12098-020-03333-9

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM311168108