Gallstone Ileus in a 25-Year-Old Female With Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: A Case Report

Gallstone ileus is an uncommon complication of cholelithiasis and the delayed diagnosis may be associated with increased risk of mortality. When gallstones block the cystic duct, they can lead to cholecystitis. If a fistula forms between the inflamed gallbladder and the adjacent intestine, the gallstones may pass into the intestinal tract and cause obstruction in the intestine. We report a case of 25-year-old female with developmental and epileptic encephalopathy who was intraoperatively diagnosed with gallstone ileus during surgery for small bowel obstruction of unknown origin. The patient had potential risk factors enhancing the formation of cholesterol gallstones, including long-term use of phenobarbital, vagus nerve injury in open gastrostomy and laparoscopic fundoplication, and tube feeding; however, the patient's gallstone had been undiagnosed for a long time. Computed tomography of the abdomen showed small bowel obstruction and pneumobilia. The presence of pneumobilia in a patient without a surgical history of the biliary system should raise suspicion of a bilioenteric fistula. The awareness of this complication of cholelithiasis is important to make an early diagnosis and to initiate the appropriate treatment.