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.
journal_name
Hum Patholjournal_title
Human pathologyauthors
Becher MW,Wills ML,Noll WW,Hurko O,Price DLdoi
10.1016/s0046-8177(99)90204-6subject
Has Abstractpub_date
1999-05-01 00:00:00pages
577-81issue
5eissn
0046-8177issn
1532-8392pii
S0046-8177(99)90204-6journal_volume
30pub_type
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