P-122 Rare Case of Kearns-Sayre Syndrome and Inflammatory Bowel Disease

Abstract

BACKGROUND: This case study presents a rare patient with Kearns-Sayre syndrome along with induced Type 1 diabetes, chronic kidney disease stage 4-5, pancreatic insufficiency, recurrent neutropenia and thrombocytopenia. According to research, most patients with a mitochondrial disorder are likely to develop complications with the endocrine system. However, diabetes remains rare among children with Kearns-Syndrome. Most patients with Kearns-Sayre syndrome are found to have cardiac manifestations along with ophthalmic complications. This patient began suffering from diarrhea that was resistant to antibiotics and then began having blood in the stools. The patient underwent an endoscopy and colonoscopy and was diagnosed with Irritable Bowel Disease with the most damage found in the colon. Research with IBD patients has found the mucosal healing can be achieved when patients are given enteral nutrition, orally or via nasogastric/gastric tube, for 8-12 weeks. Initial research suggested the use of hydrolyzed or elemental formulas to achieve healing; however, more recent research has shown the polymeric formulas demonstrated the same results with better compliance and tolerance in the pediatric population. Enteral nutrition should meet 100% of diet needs for 6-12 weeks with greater success found with EN for 12 weeks total. Many researchers advise an endoscopy and/or colonoscopy 4 to 6 weeks after initiating enteral therapy to ensure the patient is responding appropriately. METHODS: In this particular case, special considerations were made to renal function and diabetes along with IBD diagnosis. The patient began with steroid therapy but due to the chronic kidney disease was weaned and started on enteral therapy. Prior to treatment the patient was receiving a renal formula via g-tube. After conducting more research on enteral therapy, the patient was initiated on a pediatric elemental formula, 750 ml with 1400 ml of free water, to meet all calorie and fluid needs. Special attention was also made to micronutrients due to the patient's kidney disease. Shortly after initiation, the patient began having retching and was changed to a different pediatric elemental formula with good tolerance. Due to underlying conditions, the patient began experiencing rapid weight gain and feeds were reduced by 5% to 675 ml of formula. Renal labs are checked every 2 weeks to monitor renal function. RESULTS: Patients receiving enteral therapy to induce remission of IBD have shown improved outcomes with about 75 percent of patients achieve mucosal healing. After 16 weeks of enteral therapy, the patient underwent another endoscopy and colonoscopy. Most of the damage originally seen in the colonoscopy had been repaired and the patient was found to be in remission. This patient continued on the elemental formula after remission was achieved. CONCLUSIONS: IBD is rarely seen within Kearns-Sayre syndrome or another mitochondrial anomaly. Despite this patients underlying conditions, enteral therapy proved to be the ideal treatment for IBD. After 16 weeks of elemental formula the damage found in the colon improved along with the symptoms associated with IBD. Enteral therapy should be considered in more patients diagnosed with IBD, especially those with other complicating factors. (Figure Presented).