# A nurse is assessing a 3-month-old infant brought to the pediatric clinic by concerned parents. Which assessment finding would be most indicative of Hirschsprung's disease? > source: MyMerci (mymerci.kr) > url: https://mymerci.kr/pages/nclex_q.php?qn_id=542080 > language: ko > subject: Child Health ## 문제 A nurse is assessing a 3-month-old infant brought to the pediatric clinic by concerned parents. Which assessment finding would be most indicative of Hirschsprung's disease? ## 보기 1. Frequent loose stools with mucus and a foul odor 2. Projectile vomiting after feeding with weight loss 3. Abdominal distention with visible peristaltic waves 4. Failure to pass meconium in 48 hours with chronic constipation **✔ 정답** **정답: 4** ## 해설 Delayed passage of meconium beyond 48 hours after birth with chronic constipation is the hallmark sign of Hirschsprung's disease due to absent ganglion cells. Other options are more typical of other gastrointestinal conditions like gastroenteritis or pyloric stenosis. ## 심화 해설 Understanding Hirschsprung's Disease Hirschsprung's disease (HD) is a congenital disorder characterized by the absence of parasympathetic ganglion cells in the distal bowel, most commonly in the rectosigmoid colon. This aganglionosis results in a lack of peristalsis in the affected segment, leading to a functional intestinal obstruction. The key to answering this NCLEX-style question lies in recognizing the classic clinical presentation timeline and differentiating it from other pediatric gastrointestinal conditions. Analysis of the Assessment Findings The correct answer is the option that describes failure to pass meconium within 48 hours of birth coupled with a history of chronic constipation. This presentation is the hallmark of Hirschsprung's disease. The foundational pathology is present from birth, and the most common initial sign is a delay in the passage of the first stool, meconium. In a healthy term infant, meconium is typically passed within the first 24 to 48 hours of life. A failure to do so is a major red flag that should immediately prompt an investigation for HD. As the infant grows, the functional obstruction caused by the aganglionic segment manifests as persistent, severe constipation that is refractory to usual treatments. This is supported by the case report of an 18-year-old patient, which explicitly states that HD is "most commonly diagnosed in the neonatal period or early childhood, typically due to failure to pass meconium within the first 24 hours of life" [3]. The other options represent different pathophysiological processes: - Frequent loose stools with mucus and a foul odor is more suggestive of an infectious or inflammatory process, such as gastroenteritis, or a malabsorption syndrome like cystic fibrosis, rather than a mechanical obstruction from aganglionosis. - Projectile vomiting after feeding with weight loss is a classic presentation of pyloric stenosis. In this condition, the obstruction is at the gastric outlet, leading to forceful, non-bilious vomiting, not the distal colonic obstruction seen in HD. - While abdominal distention with visible peristaltic waves can occur in HD, especially in older infants and children with chronic obstruction, it is a later sign and less specific. The most indicative finding is the history that starts in the immediate newborn period with failure to pass meconium. The Consequence of Delayed Diagnosis The question emphasizes a 3-month-old infant, highlighting a critical window for diagnosis. A failure to recognize the early signs leads to a delayed diagnosis, which is defined in the literature as a diagnosis made after 12 months of age [1,2]. The provided evidence underscores that while uncommon, a delayed diagnosis is associated with worse outcomes and serious complications. The case of the 18-year-old male illustrates this trajectory perfectly; a "longstanding history of chronic constipation since infancy" culminated in a severe presentation with progressive abdominal distension, a fecaloma, and ultimately a colonic perforation, a life-threatening emergency [3]. Similarly, a 27-year-old patient with a history of chronic constipation presented with an acute bowel obstruction that required a panproctocolectomy . These cases serve as a stark reminder that chronic, severe constipation beginning in infancy is not a benign condition but a potential sign of unmanaged Hirschsprung's disease that can lead to enterocolitis, volvulus, or perforation. Therefore, the nurse's assessment must prioritize a thorough history of bowel habits from birth, as the earliest sign—failure to pass meconium—is the most sensitive and specific indicator for prompting further diagnostic workup, such as a contrast enema or rectal suction biopsy.References (research sources) - [3]Delayed Diagnosis of Hirschsprung Disease in an 18-Year-Old Male Patient With Fecaloma and Colonic Perforation: A Case Report.Case reportMartínez Gómez AY, Pelayo González S, Lawers Cuen G, Chávez Uriarte EA, Ruiz Lara FJ, Castañeda Llanos M, Torres Salazar QL. (2025) · DOI: 10.7759/cureus.91336 ## 임상 시나리오 Recognizing Hirschsprung's Disease in InfantsKey Assessment Findings and Clinical Timeline The most critical early sign is failure to pass meconium within 48 hours of birth. This is the hallmark initial presentation and should immediately raise suspicion. As the infant develops, the functional obstruction manifests as chronic constipation that is refractory to standard treatments. This is a direct consequence of the aganglionic segment lacking peristalsis. CautionDo not confuse this with pyloric stenosis, which presents with projectile vomiting, or with infectious colitis, which presents with loose, foul-smelling stools. A digital rectal exam may reveal an empty rectal vault followed by an explosive release of stool and gas, but this is a diagnostic clue, not the most indicative initial finding from history. ## 핵심 개념 - **Hirschsprung's Disease** — A congenital condition caused by the absence of parasympathetic ganglion cells in the distal bowel, resulting in a lack of peristalsis and functional intestinal obstruction. - **Meconium** — The first stool of a newborn, which is typically passed within the first 24 to 48 hours of life; delayed passage is a critical sign of Hirschsprung's disease. - **Aganglionosis** — The absence of nerve cells (ganglion cells) in a segment of the bowel wall, which is the underlying pathology in Hirschsprung's disease. - **Functional Obstruction** — A blockage in the intestine caused by a lack of coordinated muscle contractions (peristalsis) rather than a physical mass or narrowing. - **Pyloric Stenosis** — A condition in infants where the pylorus muscle thickens, causing projectile vomiting, weight loss, and dehydration, often presenting at 2-8 weeks of age. ## 같은 주제 문제 - [A nurse is assessing a 6-month-old infant who is suspected of having Hirschsprung's diseas…](https://mymerci.kr/pages/nclex_q.php?qn_id=542079) - [A 2-year-old toddler is admitted with a diagnosis of Hirschsprung's disease and is schedul…](https://mymerci.kr/pages/nclex_q.php?qn_id=542081) - [A 6-month-old infant with Hirschsprung's disease is scheduled for a pull-through procedure…](https://mymerci.kr/pages/nclex_q.php?qn_id=542082) - [A 2-year-old toddler is admitted with a diagnosis of Hirschsprung's disease and is schedul…](https://mymerci.kr/pages/nclex_q.php?qn_id=542083) --- More free questions: [기출문제](https://mymerci.kr/) _학습 참고용입니다. 실제 임상은 최신 지침과 소속 기관 프로토콜을 따르세요._