Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism

Indian J Pediatr. 2020 Dec;87(12):1070-1072. doi: 10.1007/s12098-020-03333-9. Epub 2020 Jun 15.

Abstract

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.

Keywords: Failure to thrive; Hypoparathyroidism; Mitochondrial genome; Pearson syndrome; Sideroblastic anemia.

Publication types

  • Case Reports

MeSH terms

  • Anemia
  • Child
  • Congenital Bone Marrow Failure Syndromes*
  • Female
  • Humans
  • Hypoparathyroidism* / complications
  • Hypoparathyroidism* / diagnosis
  • Hypoparathyroidism* / genetics
  • Lipid Metabolism, Inborn Errors*
  • Mitochondrial Diseases*
  • Muscular Diseases*

Supplementary concepts

  • VLCAD deficiency