EN
TÜRKÇE
Poster Display - 49
Navigating the Extremes: Outcomes of Total Intestinal Hirschsprung Disease and Short Bowel Syndrome in a Specialized Intestinal Rehabilitation Program
Purpose
Total intestinal Hirschsprung disease (TIHD), also termed total intestinal a ganglionosis (TIA), is the rarest and most severe form of Hirschsprung disease. TIHD is defined by the absence of enteric ganglion cells extending from the duodenum or proximal jejunum to the rectum. Management is challenging due to profound dysmotility, prolonged parenteral nutrition (PN) dependence, and severe complications.
Method
This retrospective case series describes the presentation, surgical management, nutritional course, complications, and outcomes of four patients diagnosed with TIHD over a 13-year period. Data were extracted from patient records, including demographic details, extent of a ganglionosis, surgical procedures, PN dependence, Hirschsprung-associated enterocolitis (HAEC), central line-associated bloodstream infections (CLABSI), hepatic dysfunction, and survival.
Results
All patients were male, born at term, with birth weights 3,340–3,790 g. Diagnosis occurred within the first 19 days of life. A ganglionosis extended to the proximal jejunum (25 cms)in three patients and more distally in one(55cms). Final bowel length ranged from 85–145 cm. All presented neonatally with delayed meconium passage, distension, and bilious vomiting. Each underwent 3–5 laparotomies. Initial diversion included ileostomy (n=1), tube jejunostomy (n=2), or jejunostomy (n=1). Definitive pull-through was performed in all cases. Three patients received autologous intestinal reconstructive procedures. TPN duration ranged from 2 to 10 years; one remained fully TPN-dependent, two partially dependent, and one has achieved intestinal autonomy. Enteral tolerance was limited, with only one patient achieving full enteral autonomy. CLABSI occurred 0–19 times per patient. HAEC developed in three patients, and one developed chronic liver dysfunction. All survived through 5–11 years of follow-up, but bowel dysfunction persisted.
Conclusion
TIHD is associated with intensive surgical intervention, prolonged PN dependence, and high morbidity. Despite multidisciplinary care, outcomes remain limited by persistent bowel dysfunction and nutritional challenges. Further research and standardized management strategies are needed to improve care.