Rare Pyloric Stenosis in Mitochondrial Disease Treated with Hand-Assisted Laparoscopic Pyloromyotomy.

Mitochondrial diseases are rare genetic disorders that affect the body's ability to produce energy at the cellular level. Because many organs rely heavily on mitochondrial function, these diseases can cause a wide range of symptoms involving the nervous system, muscles, heart, and gastrointestinal tract. Gastrointestinal complications are common and may include difficulty swallowing, gastroparesis, and intestinal motility disorders. Although pyloric stenosis has rarely been reported, mitochondrial dysfunction affecting gastrointestinal smooth muscle and enteric neuronal function provides a plausible mechanism for the development of gastric outlet obstruction and pyloric dysfunction, leading to severely limited nutritional intake, weight loss, and malnutrition. We present the case of a young woman with a mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) variant who developed severe pyloric stenosis resulting in chronic gastric outlet obstruction and profound malnutrition. Her condition progressed to complete dependence on total parenteral nutrition (TPN) and was complicated by recurrent septicemia related to central line-associated bloodstream infections (CLABSI). After failing conservative treatment, she underwent laparoscopic hand-assisted pyloromyotomy with intraoperative esophagogastroduodenoscopy. Following surgery, her gastric emptying improved significantly, allowing her to regain weight and discontinue TPN. With her nutritional status and strength restored, she was able to resume normal activities and successfully complete her college education. This case demonstrates the significant gastrointestinal complications that can occur in mitochondrial disease and highlights the potential benefit of surgical intervention in selected patients with severe pyloric dysfunction.