Kearns-Sayre syndrome presenting as renal tubular acidosis.
Renal tubular acidosis and tetany were the 1st manifestations of Kearns-Sayre syndrome in a 5-year-old child. Subsequently, he developed progressive external ophthalmoplegia, ptosis, retinopathy, heart block, and endocrinopathy. There was a 7.5-kb deletion of mitochondrial DNA documented in muscle, kidney, skin fibroblasts, and leukocytes, providing evidence for a multisystem mitochondrial cytopathy.
Eviatar
L
L
Schneider Children's Hospital, Long Island Jewish Medical Center, New Hyde Park, NY 11042.
Shanske
S
S
Gauthier
B
B
Abrams
C
C
Maytal
J
J
Slavin
M
M
Valderrama
E
E
DiMauro
S
S
D000141:Acidosis, Renal Tubular / Q000209:etiology* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000378:metabolism; D004848:Epithelium / Q000648:ultrastructure; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D007684:Kidney Tubules / Q000648:ultrastructure; D008297:Male; D008928:Mitochondria / Q000648:ultrastructure; D009132:Muscles / Q000378:metabolism
D004272:DNA, Mitochondrial