Immature colonic ganglion cells as a cause of megacolon in infancy: case report

Abstract

Immaturity of ganglion cells is a rare form of dysganglionosis that belongs to the group of dysmorphic types, characterized by a normal or mildly decreased number of ganglion cells, with the cells and their nuclei being considerably smaller in size. The disorder usually manifests clinically early after birth with abdominal distension, vomiting, feeding intolerance, and delayed passing of meconium. Diagnostic evaluation may include radiological studies; however, biopsy of colonic mucosa with histochemical analysis is considered the most reliable method. Manometry is a reliable noninvasive diagnostic study to confi rm motility disorder. Treatme nt may be medical in mild cases and more commonly surgical due to complications of the disorder. We present a case of immature colonic ganglion cells as a cause of megacolon in infancy. In our case, medicamentous treatment was eff ective and led to normalization of bowel emptying and stool consistency. Considering that follow up rectosigmoidoscopy was refused by the patient’s parents, we were not able to compare the histopathologic fibefore and after the medicamentous treatment; however, the favor able clinical course made us assume that the ganglion cells had probably fully matured.