Kearns-Sayre syndrome presenting with fanconi syndrome: a case report.

ABSTRACT:

Background

Kearns-Sayre syndrome (KSS) is a mitochondrial genetic disorder characterized by progressive external ophthalmoplegia, short stature, atrioventricular block, and proximal renal tubular dysfunction. While Fanconi syndrome is a recognized renal manifestation of KSS, it is rare as the initial presenting feature. This report describes the clinical and genetic features of a child with KSS who initially presented with Fanconi syndrome.

Case description

A 10-year-old girl, initially diagnosed with Fanconi syndrome at 3 years of age, exhibited growth retardation by age 5 years and bilateral ptosis by age 8 years. In July 2022, her age of 10 years, she developed diabetes mellitus and third-degree atrioventricular block. The patient presented for medical evaluation. Upon ex

SUBMITTER: Lu Y 

PROVIDER: S-EPMC12163809 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature