Hirschprung's disease

dr. OS " congenital megacolon is caused by malformation in the pelvic parasympathetic system which results in the absence of ganglion cells in auerbachs plexus of a segment of distal colon. Not only is there an absence of ganglion cells, but the nerve fibers are large and excessive in number, indicating that the anomaly may be more extensive than the absence of ganglion cells".
Patient with hirschsprungs disease have an increased frequency of mutation in several genes, including GDNF, its receptor Ret, or its coreceptor Gfra-1. Initial investigations indicate that GDNF promotes the survival, proliferation, and migration of mixed population of neural crest cells in culture.
Clinical presentation: abdominal distention, failure to pass meconium (48 hours), and bilious emesis. Abnormal peristalsis, a functional distal intestinal obstruction. Complication is enterocolitis ( fever, failure to thrive, and lethargy, dehidrated.
The definitive diagnosis is made by rectal biopsy. Samples of mucosa and submucosa are obtained at 1cm, 2cm,3cm from dentate line.
Treatment: rehydration, antibiotics, nasogastric decompression, rectal irrigations. If HD doesnt respond to nonoperative management, a decompressive stoma is required. It is important to ensure that this stoma is placed in ganglion-containing bowel, which must be confirmed by frozen section at the time of stoma creation. HD requires surgery in all cases. This included a colostomy in the newborn period, followed by a definitive pull-through operation after the child weighed over 10kg.