Педиатрия и терапия

Педиатрия и терапия
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ISSN: 2161-0665


Pearson Syndrome as a Rare Cause of Failure to Thrive, Anemia and Exocrine Pancreatic Insufficiency: A Case Report

Taito Kitano and Sayaka Yoshida

Pearson syndrome is a rare mitochondrial disorder. We present a 1-year-old girl with Pearson syndrome confirmed by the deletion of mtDNA (a 2.7-kb deletion, m.11244_13981del2738). She presented with failure to thrive, anemia, exocrine pancreatic insufficiency and severe liver failure. She also had elevated serum lactate and alanine level and renal tubular dysfunction. She required multiple packed red blood cell transfusions, which led to iron chelation therapy due to her elevated serum ferritin level. Nutritional management including vitamin supplement was performed, which did not help save her life.
In conclusion, although Pearson syndrome is a rare disorder, we need to consider the possibility of Pearson syndrome in case of failure to thrive in addition to multiple organ involvement such as bone marrow, liver, kidney and pancreatic insufficiency.