Hirschsprungsjúkdómi

Hirschsprungsjúkdómi is a congenital disorder characterized by the absence of ganglion cells in the walls of the distal bowel, most commonly affecting the colon. These nerve cells, known as Meissner's and Auerbach's plexuses, are crucial for the coordinated muscle contractions (peristalsis) that propel fecal matter through the intestines. Without them, a segment of the bowel remains constricted and unable to relax, leading to a functional obstruction.

The condition is present at birth, though symptoms may not always be immediately apparent. In newborns, common signs include failure to pass meconium within the first 48 hours of life, abdominal distention, vomiting, and constipation. In older children and adults, symptoms can include chronic constipation, a distended abdomen, poor weight gain, and recurrent episodes of enterocolitis, a serious inflammation of the intestines.

The exact cause of Hirschsprungsjúkdómi is not fully understood, but it is believed to involve a disruption in the development of neural crest cells during fetal development, which are responsible for forming the enteric nervous system. Genetic factors play a significant role, with mutations in several genes identified as contributing to the condition. It can occur sporadically or as part of certain genetic syndromes.

Diagnosis typically involves a physical examination, abdominal X-rays, and a contrast enema. The definitive diagnosis is made through a rectal biopsy, which examines tissue from the bowel wall for the absence of ganglion cells. Treatment for Hirschsprungsjúkdómi is surgical, aiming to remove the affected segment of the bowel and reconnect a healthy, ganglion-innervated portion to the anus. The surgical approach can vary, with options including pull-through procedures performed in one or two stages.