Birth defect with absence of nerve cells in the large intestine is:

IGNOU PB Bsc Nsg.Entrance-2026

Child Health Nursing (Pediatrics)

Easy

Appeared in: IGNOU PB Bsc Nsg.Entrance-2026

Explanation

Hirschsprung's disease is a congenital condition defined by the absence of ganglion nerve cells in the muscle layers of the distal colon.
These nerve cells, which form the Meissner and Auerbach plexuses, are responsible for peristalsis (the coordinated muscle contractions that move stool).
The absence of these cells (aganglionosis) results in a segment of the bowel that cannot relax, causing a functional obstruction.
This leads to the classic signs of failure to pass meconium in the first 48 hours of life, constipation, abdominal distention, and bilious vomiting.

Option A: Pyloric stenosis involves the hypertrophy (thickening) of the pyloric muscle between the stomach and small intestine. It is a muscular issue, not a neurological one involving the absence of nerve cells.
Option C: Cystic fibrosis is a genetic disorder affecting exocrine glands, leading to abnormally thick mucus. In the gut, this can cause meconium ileus, but it does not involve an absence of nerve cells.
Option D: Biliary atresia is a condition where the bile ducts outside and inside the liver are scarred and blocked, preventing bile from flowing to the intestine. It affects the hepatobiliary system, not the nerve cells of the colon.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Pathophysiology of congenital gastrointestinal disorders as background academic context rather than a clinical decision trigger.
The hallmark sign of Hirschsprung's disease in a newborn is the failure to pass meconium within the first 24-48 hours of life. This is a critical assessment finding for nurses to report.
Definitive diagnosis requires a rectal suction biopsy to confirm the absence of ganglion cells. Nursing care involves preparing the infant and family for this procedure.
The primary treatment is surgical removal of the aganglionic bowel segment (a 'pull-through' procedure). Post-operative nursing care is crucial for preventing complications like enterocolitis.

How to Approach the Question

First, identify the key pathology described in the question stem: 'absence of nerve cells in the large intestine'.
This is a factual recall question that requires knowledge of the pathophysiology of specific congenital disorders.
Review each option and match its definition to the pathology in the stem.
Pyloric stenosis is muscle thickening. Cystic fibrosis is a mucus/gland disorder. Biliary atresia is a bile duct blockage.
Recall that Hirschsprung's disease is specifically defined by the congenital absence of ganglion (nerve) cells in the colon, which directly matches the question's description.

Concept Tested & Keywords

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E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed pp. 756-758, 757-759

E6 Nelson Textbook of Pediatrics(2024) — Volume 2 p. 64-66