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Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism

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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.

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Acknowledgments

The authors are grateful to the patient and her family for their precious cooperation in this study and also grateful to MedGenome laboratories for performing the test.

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Authors and Affiliations

  1. Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, 226014, India

    Mayank Nilay & Shubha R. Phadke

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  1. Mayank Nilay
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  2. Shubha R. Phadke
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Contributions

MN: Drafting the manuscript, procuring patient details and management; SRP: Critical revision, intellectual input, editing the manuscript and final approval. SRP will act as guarantor for this paper.

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Correspondence to Shubha R. Phadke.

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Nilay, M., Phadke, S.R. Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism. Indian J Pediatr 87, 1070–1072 (2020). https://doi.org/10.1007/s12098-020-03333-9

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  • DOI: https://doi.org/10.1007/s12098-020-03333-9

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