From the Guidelines
The correct answer is (b) enterocolitis is the leading cause of death. Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the distal colon, leading to functional intestinal obstruction. While barium enema can be suggestive of the condition, it is not the confirmatory test; rectal biopsy showing absence of ganglion cells is the gold standard for diagnosis 1. The condition predominantly affects males, not females, with a male-to-female ratio of approximately 4:1. The aganglionic segments in Hirschsprung's disease actually show hypertrophied nerve trunks (not absent nerve trunks), which contain increased acetylcholinesterase activity. Some key points to consider in the diagnosis and management of Hirschsprung's disease include:
- The importance of clinical evaluation, including history and physical examination, in leading to the diagnosis in most instances 1
- The role of imaging studies, such as barium enema, in suggesting the condition, but not confirming it 1
- The need for rectal biopsy to confirm the diagnosis of Hirschsprung's disease
- The predominance of the condition in males, with a male-to-female ratio of approximately 4:1
- The presence of hypertrophied nerve trunks in the aganglionic segments, which contain increased acetylcholinesterase activity
- The risk of enterocolitis, which remains the most serious complication and leading cause of mortality in these patients, characterized by abdominal distension, explosive diarrhea, and potentially progressing to septic shock if not promptly treated 1. Management includes initial colostomy followed by definitive pull-through surgery to remove the aganglionic segment.
From the Research
Diagnosis and Characteristics of Neonatal Hirschsprung's Disease
- Diagnosis of Hirschsprung's disease is confirmed by visualization of a transition zone on contrast enema and confirmation via rectal biopsy 2.
- Barium enema is a primary imaging modality for the evaluation of clinically suspected Hirschsprung's disease, with a sensitivity of 0.95 and specificity of 0.73 3.
- The absence of ganglion cells in the myenteric and submucosal plexuses of the intestine is a characteristic feature of Hirschsprung's disease 2, 4.
Complications and Treatment of Neonatal Hirschsprung's Disease
- Enterocolitis is a potential life-threatening complication of Hirschsprung's disease, and prompt surgical intervention can protect infants from this condition 2, 5.
- Surgical removal of the aganglionic bowel and reconstruction of the intestinal tract is the typical management approach for Hirschsprung's disease 2.
- Various surgical procedures, including Swenson, Soave, and Duhamel procedures, can be undertaken to treat Hirschsprung's disease 2, 6, 4.