Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion

Mark W. Becher, Marcia L. Wills, Walter W. Noll, Orest Hurko, Donald L. Price

Research output: Contribution to journalArticle

Abstract

Kearns-Sayre syndrome (KSS) and Pearson's marrow-pancreas syndrome (PMPS) are rare disorders caused by the same molecular defect, one of several deletion mutations in mitochondrial DNA (mtDNA). KSS is an encephalomyopathy with ophthalmoplegia, retinal degeneration, ataxia, and endocrine abnormalities. PMPS is a disorder of childhood characterized by refractory anemia, vacuolization of bone marrow cells, and exocrine pancreas dysfunction. Children with PMPS that have a mild phenotype, or are supported through bone marrow failure, often develop the encephalomyopathic features of KSS. The subject of numerous reports in the neuromuscular, genetic, and pediatric literature in recent years, very few cases of either disorder have ever been studied at autopsy. We report the results of our studies of a patient with clinically documented KSS who presented with renal dysfunction and was found to have a novel mtDNA deletion and degenerative changes in the central nervous system, retina, skeletal muscle, and pancreas.

Original languageEnglish (US)
Pages (from-to)577-581
Number of pages5
JournalHuman pathology
Volume30
Issue number5
DOIs
StatePublished - Jan 1 1999

Keywords

  • Basal ganglia (pathology)
  • DNA mutational analysis
  • Kearns-Sayre syndrome (genetics, pathology)
  • Mitochondrial DNA
  • Pearson's syndrome (genetics, pathology)

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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