Attending Physician University of Miami/Jackson Memorial Hospital Miami, Florida, United States
Case Diagnosis: A 6-year-old male dependent on total parenteral nutrition (TPN) underwent a multi-visceral organ transplant involving the stomach, intestine, pancreas and liver due to a congenital diagnosis of total intestinal aganglionosis, a condition characterized by lack of enteric nerve cells.
Case Description: Though his multi-visceral transplant was crucial in his treatment, the patient still demonstrated severe oral aversion, poor food manipulation skills, and deficits in expressive communication and gross motor functioning. He was placed on pharmacological interventions for pro-mobility to assist with digestion. He also underwent aggressive rehabilitation aimed at improving oral motor skills, encouraging food acceptance, and enhancing understanding of the feeding process with use of techniques targeting food manipulation skills, such as lateralization, biting, and problem-solving. Additionally, he worked with therapy to improve his gross motor skills, fine motor skills, endurance, and truncal stability. The role of comprehensive rehabilitation and medical management was pivotal, and he demonstrated significant improvement in his ability to tolerate oral foods for adequate nutrition, increased strength and activity endurance, and communication.
Discussions: Total intestinal aganglionosis is a rare condition leading to severe motility disorders. Though multi-visceral transplants are a crucial therapeutic option in severe cases, this case highlights how this condition can impact more than just oral intake and digestion. This patient demonstrated deficits in communication, physical endurance, gross motor skills, as well as a pediatric eating disorder with an aversion to foods contributing to his malnutrition. He required comprehensive rehabilitation with therapy and medical management to help overcome these challenges.
Conclusions: This case emphasizes the critical role of a tailored approach involving surgical intervention, medical management, direct feeding interventions, and therapy aimed at improving overall function and overcoming the resulting challenges seen in total intestinal aganglionosis.
