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Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature
Author(s) -
Wild K. Taylor,
Goldstein Amy C.,
Muraresku Colleen,
Ganetzky Rebecca D.
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61433
Subject(s) - sideroblastic anemia , kearns–sayre syndrome , phenotype , exocrine pancreatic insufficiency , pediatrics , mitochondrial dna , mitochondrial respiratory chain , medicine , respiratory chain , genetics , anemia , biology , mitochondrion , gene , pancreatitis
Pearson syndrome (PS) is a multisystem mitochondrial respiratory chain disorder typically characterized by sideroblastic anemia and exocrine pancreatic insufficiency. PS is caused by a single large‐scale mitochondrial DNA (mtDNA) deletion. PS classically presents in the first year of life and may be fatal in infancy. Children who survive PS may progress to develop Kearns–Sayre syndrome later in life. The full phenotypic spectrum and prognosis of the condition continue to evolve. Here we report five new patients with PS with unique clinical presentations, including four patients with onset later than previously reported in the literature, and one patient with prenatal onset of symptoms. The timing and unique features of these presentations support an expanded phenotypic spectrum of single large‐scale mtDNA deletion syndromes (SLSMDS) and reinforce the importance of including SLSMDS in the differential for children with complex multisystem presentations.