Advances in Diagnosis of Mitochondrial Diseases: Case Report of an Infant with Pearson Syndrome


Advances in Diagnosis of Mitochondrial Diseases: Case Report of an Infant with Pearson Syndrome


Lilian Cohen MD, MPH1* and Ana Maria Rodriguez Barreto MD1*, Miguel Dario Cantu MD2, Catherine McGuinn MD1, Madhu Ouseph MD, PhD2, Sanjay Patel MD, MPH2, Shipra Kaicker MD1

1Department of Pediatrics, Weill Cornell Medical College, New York Presbyterian Hospital; 2Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York Presbyterian Hospital


Pearson syndrome (PS) is a mitochondrial disorder that presents in early infancy as a multisystemic disease affecting the bone marrow and pancreas. It may present with anemia, diarrhea, exocrine pancreatic dysfunction, and failure to thrive.[1] Delay in diagnosis can lead to severe morbidity and mortality in infancy.  We report the case of a 9-month-old presenting with failure to thrive, severe macrocytic anemia and pancytopenia initially thought to have gastroesophageal reflux and feeding intolerance. Severe macrocytic anemia and pancytopenia prompted an early bone marrow evaluation. Abnormal bone marrow findings including vacuolated marrow precursors and ringed sideroblasts along with persistent mild lactic acidosis led to a rapid and extensive genetics workup. Whole exome sequencing including mitochondrial genome sequencing detected a 2.3 kb heteroplasmic deletion in m.12113_14421 encompassing the MT-ND5 gene consistent with the diagnosis of Pearson Syndrome. This case report highlights the advances in molecular genetic testing to diagnose patients with complex medical histories along the spectrum of mitochondrial diseases and the importance of early diagnosis to start treatment.


Abbreviations: Pearson syndrome (PS); mitochondrial DNA (mtDNA); Kearns-Sayre syndrome (KSS); Mitochondrial Encephalomyopathy, lactic acidosis and stroke-like episodes (MeLAS); Hematopoietic Stem Cells for Transplantation (HSCT), Preimplantation Genetic Testing (PGT), Human Leukocyte Antigen (HLA).


Keywords: Mitochondrial disease, Pearson Syndrome, Molecular Genetic Testing, Whole Exome Sequencing, Mitochondrial DNA.


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How to cite this article:

Lilian Cohen, Ana Maria Rodriguez Barreto, Miguel Dario Cantu, Catherine McGuinn, Madhu Ouseph, Sanjay Patel, Shipra Kaicker. Advances in Diagnosis of Mitochondrial Diseases: Case Report of an Infant with Pearson Syndrome. International Journal of Case Reports, 2021,5:218. DOI: 10.28933/ijcr-2021-05-2505


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