Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 182, Issue 2, Pages 365-373Publisher
WILEY
DOI: 10.1002/ajmg.a.61433
Keywords
single large-scale mitochondrial DNA deletion syndromes; Kearns-Sayre syndrome; mitochondrial; Pearson syndrome
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Funding
- United States National Institutes of Health [K08-DK113250]
- National Institute of Diabetes and Digestive and Kidney Diseases
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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.
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