{Reference Type}: Case Reports
{Title}: Kearns-Sayre syndrome: Two case reports and a review for the primary care physician.
{Author}: Richmond C;Powell L;Brittingham ZD;Mancuso A;
{Journal}: J Family Med Prim Care
{Volume}: 12
{Issue}: 4
{Year}: 2023 Apr
暂无{DOI}: 10.4103/jfmpc.jfmpc_1790_22
{Abstract}: Kearns-Sayre syndrome (KSS) is a mitochondrial encephalopathic disorder. Because mitochondria are ubiquitous organelles that are present in almost every human tissue, their dysfunction can affect nearly any organ system and give rise to a wide range of clinical characteristics. 1: As is the case with most diseases associated with mitochondrial DNA (mtDNA) mutations, the clinical features of KSS were defined before modern molecular genetic classifications emerged. 2: The exact prevalence of KSS is unknown; however, estimates place it at about 1:100,000 people. Although it is a rather rare syndrome, the ability to recognize or consider KSS as part of a differential diagnosis is crucial. Reported here are two case reports: 1) a 30-year-old Caucasian female patient who presented for evaluation to her primary care physician's office and, and 2) A 57-year-old Caucasian female patient long-term C care resident. Guidelines are listed for management as a primary care physician as well as signs and symptoms that are often associated with Kearns-Sayre syndrome and other mitochondrial disorders.