TY - JOUR
T1 - Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion
AU - Becher, Mark W.
AU - Wills, Marcia L.
AU - Noll, Walter W.
AU - Hurko, Orest
AU - Price, Donald L.
N1 - Funding Information:
Supported in part by PHS NS02027 NS07179, NIH AG05146, and the Cal Ripken/Lou Gehrig Fund for Neuromuscular Research (to MWB). Presented in abstract form at the 71st annum meeting of the American Association of Neuropathologists (l Neuropathol Exp Neurol 54:453, 1995).
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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.
KW - Basal ganglia (pathology)
KW - DNA mutational analysis
KW - Kearns-Sayre syndrome (genetics, pathology)
KW - Mitochondrial DNA
KW - Pearson's syndrome (genetics, pathology)
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U2 - 10.1016/S0046-8177(99)90204-6
DO - 10.1016/S0046-8177(99)90204-6
M3 - Article
C2 - 10333230
AN - SCOPUS:0032914655
SN - 0046-8177
VL - 30
SP - 577
EP - 581
JO - Human Pathology
JF - Human Pathology
IS - 5
ER -