Lopes, Kariny Louize; Lilia Rosário Ribeiro, Heslley Machado Silva, and Robert A. Michaels. Pearson syndrome, a rare mitochondriopathy – case report. Brazilian Journal of Development (Curitiba, Paraná, Brazil), 6(11):85,542-9, doi: 10.34117/bjdv6n11-103, November 2020;

Abstract: Pearson’s Syndrome (PS) is a rare multisystemic mitochondriopathy caused by deletions and/or duplications in mitochondrial DNA (mtDNA). We describe a girl, age 3 years and 10 months, who was diagnosed with PS. The case highlights two main characteristics of PS: dysfunction in the hematopoietic system, and pancreatic exocrine insufficiency. The PS diagnosis in the present case was confirmed via molecular diagnosis, specifically mtDNA analysis, which revealed the presence of heterozygosis deletions in the MT-ND4, MT-ND5, MT-ND6 and MT-TM genes. The patient is dependent on erythropoietin to maintain hemoglobin levels, and pancreatin to manage pancreatic dysfunction. She has surpassed the average longevity of Pearson’s Syndrome patients, who usually die before age three. The PS case described here also highlights the importance of molecular diagnosis in patients exhibiting multisystemic symptoms of unknown etiology.


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