Dental Management of a Child With Mitochondrial DNA Deletion Syndrome (Kearns-Sayre Syndrome): A Case Report

Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction abnormalities. Dental management may be complicated by developmental enamel defects, high caries burden, limited cooperation, and anesthetic considerations related to multisystem mitochondrial disease. Published dental case reports focused specifically on pediatric KSS remain extremely sparse.

We describe the staged dental management of a 10-year-old girl with genetically confirmed KSS and ASA III systemic status. Clinical and radiographic assessment revealed multiple active cavitated carious lesions, localized demarcated enamel hypomineralization, plaque-induced gingivitis, chronic apical and furcation inflammatory lesions associated with teeth 47 and 46, and early apical inflammatory changes at tooth 37. Notably, the radiographic extent of posterior mandibular pathology exceeded the severity of the overlying soft-tissue findings. Treatment was organized in stages and included extraction of non-restorable teeth (37, 46, 47, 55, and 65) under elective endotracheal general anesthesia in a licensed day-care dental facility, followed by restorative treatment of the remaining teeth under local anesthesia during short, structured outpatient visits using pragmatic, time-efficient techniques and intensive caregiver-supported prevention.

This case shows that comprehensive dental care in a child with KSS is feasible when treatment is staged, interdisciplinary, and explicitly adapted to medical vulnerability and limited cooperation. In such patients, radiographically significant apical pathology may be present despite only modest clinical soft-tissue signs. Because chronic apical periodontitis can progress silently in any child with irregular dental attendance, the principal practical lesson is the importance of timely radiographic assessment when deep caries or pulpal involvement is suspected, particularly in medically complex children.