Near total intestinal aganglionosis with extreme short-bowel syndrome - A difficult surgical dilemma

Forty cases of total or near-total intestinal agangliosis (NTIA) were descr ibed to date in the English literature. Most cases had a lethal outcome. We describe the 41st case - a Beduin male neonate - who had only 30 cm of pro ximal hypoganglionic jejunum. He is presently almost one-year-old and thriv ing on home TPN, receiving one quarter of his caloric requirements orally u sing pregestamil. an MCT formula. The initial intricate course, diagnosis a nd several operative procedures, are elaborated. A review of the scant lite rature is discussed. The elusiveness of the correct diagnosis is pointed ou t and means to overcome these errors are described. Various surgical proced ures have been suggested, none of which offer the perfect solution to the s evere basic problem of short bowel. Long-term parenteral hyperalimentation is still the main modality of treatment. Based on our modest experience, we suggest saving every possible length of jejunum, even if hypoganglionic, s ince this bowel, following a few weeks of adaptation, starts to function fa irly well, suggesting perhaps some neuro-muscular maturation. The best surg ical approach is still pending. We present a report of a child with this disease and discuss the therapeuti c dilemma.