Kearns-Sayre syndrome presenting as renal tubular acidosis.
case_report · Level V
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- Record sourced from PubMed, PMID 2234434.
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Abstract
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.
Medical subject headings
- Acidosis, Renal Tubular
- Kearns-Sayre Syndrome