Kearns-Sayre syndrome (KSS) is a rare mitochondrial disorder, and the effects of radiotherapy on such a population group are unknown. A 60-year-old male with a history of KSS was diagnosed with locally advanced basal cell carcinoma along the left inner canthus. He was treated at our institution with curative intent radiotherapy alone and tolerated it well with no major acute or late toxicities. There was a complete clinical and radiological response of the tumor, with no evidence of recurrence 2.5 years after treatment. Further research is needed to explore the effects of ionizing radiation on patients with mitochondrial DNA defects.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10440007PMC
http://dx.doi.org/10.7759/cureus.42229DOI Listing

Publication Analysis

Top Keywords

kearns-sayre syndrome
8
case report
4
report kearns-sayre
4
syndrome absolute
4
absolute contraindication
4
contraindication radiotherapy
4
radiotherapy kearns-sayre
4
syndrome kss
4
kss rare
4
rare mitochondrial
4

Similar Publications

Anti-VEGF therapy for proliferative diabetic retinopathy in Kearns-Sayre syndrome.

Doc Ophthalmol

December 2024

Save Sight Institute Faculty of Medicine and Health, University of Sydney, Sydney, Australia.

Purpose: Multiple mitochondrial syndromes, such as Kearns-Sayre, involve the concurrence of diabetes mellitus and inherited pigmentary retinopathy. It is rare, however, for proliferative disease to develop in these patients as existing inner retinal dysfunction is thought to be protective.

Methods: To our knowledge this is the first description of proliferative diabetic retinopathy (PDR) in Kearns-Sayre syndrome.

View Article and Find Full Text PDF

LNC-ing Genetics in Mitochondrial Disease.

Noncoding RNA

November 2024

Department of Medicine, Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

Primary mitochondrial disease (MD) is a group of rare genetic diseases reported to have a prevalence of 1:5000 and is currently without a cure. This group of diseases includes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), Leber's hereditary optic neuropathy (LHON), Leigh syndrome (LS), Kearns-Sayre syndrome (KSS), and myoclonic epilepsy and ragged-red fiber disease (MERRF). Additionally, secondary mitochondrial dysfunction has been implicated in the most common current causes of mortality and morbidity, including cardiovascular disease (CVD) and cancer.

View Article and Find Full Text PDF
Article Synopsis
  • The study assessed the link between inherited mitochondrial dysfunction and neuromuscular junction (NMJ) remodeling in patients with mitochondrial disorders, analyzing muscle biopsies from 15 patients and 10 controls.
  • Results showed that patients with mitochondrial disorders had significantly more remodeled and neoformed NMJ endplates, with a trend towards increased Schwann cell extensions, indicating NMJ alterations even without muscle weakness.
  • The findings suggest that mitochondrial disorders may lead to NMJ remodeling as a primary issue, separate from structural muscle damage, though the exact mechanisms and clinical indicators warrant further investigation.
View Article and Find Full Text PDF

Kearns-Sayre Syndrome (KSS) is a variant of mitochondrial disorder caused by a Mitochondrial Deoxyribonucleic Acid (mtDNA) deletion. Clinical manifestations of KSS can include different organ and system involvement. Different organ malfunctions, more often cardiac dysfunction, can lead to death.

View Article and Find Full Text PDF

Long-term hematopoietic dysfunction in patients with large-scale mitochondrial DNA deletion syndromes.

Pediatr Blood Cancer

January 2025

Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.

Article Synopsis
  • Pearson syndrome (PS) and Kearns-Sayre syndrome (KSS) are mitochondrial DNA deletion syndromes with PS causing severe childhood cytopenia and KSS having later onset without blood-related issues, both sharing a common mitochondrial DNA deletion.
  • A study of 16 patients revealed that 75% had cytopenia, with many needing blood transfusions, and even after achieving transfusion independence, they showed persistent bone marrow (BM) dysfunction.
  • The research highlights that BM dysfunction is a consistent finding in SLSMD syndromes, which raises concerns about potential clonal evolution and chromosome 7 abnormalities, underscoring the need for specialized hematological monitoring for these patients.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!