Background Preoperative diagnosis of total colonic aganglionosis is important for the rational choice of treatment. The present study aimed to evaluate the diagnostic performance of radiographic signs on preoperative barium enema in patients with total colonic aganglionosis. Methods Forty-four patients [41 (3-659) days] with total colonic aganglionosis, including 17 neonatal patients, who received preoperative barium enema at our center, from January 2007 to December 2019 were included. All radiographs were retrospectively restudied by 2 pediatric radiologists to ascertain radiographic signs including rectosigmoid index, transition zone, irregular contraction, gas-filled small bowel, microcolon, question-mark-shaped colon and ileocecal valve reflux. Kappa test was performed to assess the accuracy and consistency of the radiographic signs. Results The 2 radiologists showed slight agreement for gas-filled small bowel, microcolon and rectosigmoid index, fair agreement for transition zone and irregular contraction, and moderate agreement for question-mark-shaped colon and ileocecal valve reflux (Kappa values, 0.043, 0.075, 0.103, 0.244, 0.397, 0.458 and 0.545, respectively). In neonatal patients, the 2 radiologists showed moderate agreement for ileocecal valve reflux and substantial agreement for question-mark-shaped colon (Kappa values, 0.469 and 0.667, respectively). In non-neonatal patients, the 2 radiologists showed substantial agreement for ileocecal valve reflux (Kappa value, 0.628). In 36 patients with total colonic aganglionosis extending to the ileum, the accuracies of question-mark-shaped colon, ileocecal valve reflux and the combination of both were 47%, 53%, and 75%, respectively, in one radiologist and 53%, 50% and 72%, respectively, in the other. Conclusion Ileocecal valve reflux was a reliable radiographic sign for diagnosing total colonic aganglionosis and could improve the accuracy by combination with question-mark-shaped colon.

A 3-year-old boy presented with progressive lower extremity weakness and difficulty walking for 2 months. Neurologic examination found the muscle strength of his left lower limb was grade 3 and tendon reflex was weakened. MRI demonstrated an intradural extramedullary mass between T10-11 with multiple and diffuse enhancement of thickened nerve roots and spinal dura (Figure). Juvenile xanthogranuloma was suspected as positive staining for CD68 and negative for S100 and CD1a, while immunoreactivity for ALK did not support it. The genetic test confirmed the diagnosis of ALK-positive histiocytosis with KIF5B-ALK fusion, which is a relatively new subtype of histiocytic disease.1,2