Familial Near-Total Intestinal Aganglionosis.

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Medical Genetics

Background:

• Hirschsprung's disease is a congenital disorder characterized by absent nerve cells in the colon.
• Near total intestinal aganglionosis is the most severe and rarest form, potentially affecting multiple family members.
• Familial occurrence suggests a genetic component in the etiology of Hirschsprung's disease.

Purpose of the Study:

• To report a familial case of near total intestinal aganglionosis.
• To highlight the presentation and challenges associated with this rare condition.
• To discuss the outcomes of surgical intervention in affected neonates.

Main Methods:

• Case series reporting three affected neonates from a single family.
• Description of clinical presentation (intestinal obstruction at birth).
• Surgical management involving jejunostomy.

Main Results:

• Three neonates presented with intestinal obstruction due to near total intestinal aganglionosis.
• All patients underwent surgical intervention with jejunostomy.
• The outcomes for all three patients were dismal, indicating a poor prognosis.

Conclusions:

• Near total intestinal aganglionosis is a devastating condition with a high mortality or morbidity.
• Familial cases underscore the genetic basis and the need for genetic counseling.
• Current surgical approaches may offer limited success in such extreme cases.