Nutritional issues in a diabetic patient with Kearns–Sayre syndrome

Abstract

Summary Kearns–Sayre syndrome (KSS) is a multi-system mitochondrial disease with wide clinical presentation. We describe the case of a 16-year-old girl with KSS accompanied by insulin-dependent diabetes, eosinophilic esophagitis (EoE), Fanconi syndrome, insufficiency of parathyroid gland and severe nutritional problems. Based on recent knowledge, ketogenic diet was introduced to improve metabolic and neurological condition, however in our patient we observed its bad consequences. Unresolved nutritional disorders forced us to proceed with esophagogastroduodenoscopy which revealed EoE. PEG procedure was performed and elemental diet with PPI’s was introduced leading to general improvement in the patient’s health condition. Learning points: Nutrition is an important factor in supportive care of patients with KSS. Ketogenic diet in patients affected by mitochondrial diseases and diabetes requires careful selection and monitoring. To the best of our knowledge, this is the first case that shows the coexistence of EoE, insulin-dependent diabetes and KSS.