Aganglionosis, total intestinal

= = Aganglionosis, Total Intestinal == Aganglionosis, Total Intestinal, also known as Total Intestinal Aganglionosis (TIA), is a rare and severe congenital disorder characterized by the absence of ganglion cells in the entire intestinal tract. This condition is a form of Hirschsprung's disease, which typically involves a lack of nerve cells (aganglionosis) in segments of the bowel, but in TIA, the absence extends throughout the entire intestine.

Pathophysiology

The condition arises due to a failure in the migration of neural crest cells during embryonic development. These cells are precursors to the enteric ganglia, which are essential for the normal motility of the gastrointestinal tract. Without these ganglia, the affected intestine cannot perform peristalsis, leading to severe bowel obstruction and other complications.

Clinical Presentation

Infants with Total Intestinal Aganglionosis present with symptoms shortly after birth. Common symptoms include:

• Severe abdominal distension
• Vomiting, often bilious
• Failure to pass meconium within the first 48 hours of life
• Feeding intolerance

Diagnosis

Diagnosis is typically made through a combination of clinical evaluation and diagnostic tests, including:

• Contrast Enema: May show a transition zone, although in TIA, this is less distinct.
• Rectal Biopsy: The definitive diagnostic test, showing absence of ganglion cells.
• Genetic Testing: May be performed to identify mutations associated with Hirschsprung's disease.

Treatment

Management of Total Intestinal Aganglionosis is challenging and often requires a multidisciplinary approach. Treatment options include:

• Surgical Intervention: Resection of the aganglionic bowel is not feasible in TIA due to the extent of the disease. Instead, procedures like ileostomy or colostomy may be performed to relieve obstruction.
• Parenteral Nutrition: Long-term total parenteral nutrition (TPN) is often necessary to provide adequate nutrition.
• Intestinal Transplantation: In some cases, intestinal transplantation may be considered.

Prognosis

The prognosis for Total Intestinal Aganglionosis is generally poor due to the extensive nature of the disease and complications associated with long-term TPN, such as liver disease and infections. Advances in surgical techniques and supportive care have improved outcomes, but challenges remain.

Research and Future Directions

Research is ongoing to better understand the genetic and molecular basis of TIA, with the hope of developing new treatments. Gene therapy and stem cell therapy are areas of active investigation.

See Also

• Hirschsprung's disease
• Neural crest
• Intestinal transplantation

NIH genetic and rare disease info

• NIH info on Aganglionosis, total intestinal

Aganglionosis, total intestinal is a rare disease.