Delayed Diagnosis of Kearns-Sayre Syndrome in a 38-Year-Old Male Patient: A Case Report

In 2008, a 38-year-old male was belatedly diagnosed with Kearns-Sayre syndrome (KSS), a rare mitochondrial disorder, despite exhibiting classic symptoms such as mental and motor retardation, progressive hearing loss, and syncope. Previously misdiagnosed and treated for epilepsy, the correct diagnosis was made after a muscle biopsy revealed ragged red fibers and elevated protein levels were found in the cerebrospinal fluid. This case underscores the necessity for medical professionals across various specialties to be aware of KSS to avoid diagnostic delays. KSS has a poor prognosis, with life expectancy typically into the third or fourth decade, and treatment is primarily supportive.