ABSTRACT
This chapter explains the key principles in the management of complex pediatric colorectal diagnoses. It provides case-based presentations, radiographic images, operative images with multiple choice questions to test knowledge. The chapter presents a case study of a 3-year-old boy with a history of chronic constipation poor growth, and chronic abdominal distention is assessed in the outpatient clinic. The pathology report shows ganglion cells and hypertrophic nerves measuring 90 µm. Hirschsprung disease (HD) is a congenital condition leading to a lack of ganglion cells in the seromuscular layer and the submucosa of the bowel. The disease most commonly affects the distal large colon, but long segment disease, total colonic aganglionosis, and total intestinal aganglionosis also occur. RET is a gene involved in the production of a protein required for cell signaling. Mutations within this gene leads to an abnormal RET protein that cannot transmit signals within the cell. Without RET protein signaling, enteric nerves do not function/develop properly, leading to HD.
