Early presentation of Hirschsprung’s disease with initial meconium passage: A diagnostic challenge

Abstract

Hirschsprung’s disease is a congenital condition characterized by an absence of enteric ganglionic cells. In this paper, we report a case of an 8-day-old male infant presenting with a history of constipation and progressive abdominal distension. Meconium had been passed in the newborn nursery. No stools were passed after 4 days of age, and the last one had required rectal stimulation. We emphasize the diagnostic challenges associated with Hirschsprung’s disease in neonates who initially pass meconium. Timely recognition and surgical intervention achieved a favorable outcome.

Introduction

Hirschsprung’s disease (HSCR) is a rare congenital condition resulting from the failure of neural crest cell migration, leading to an absence of enteric ganglion cells in the colon. It is categorized into three subtypes: short-segment, long-segment, and total colonic aganglionosis. Short-segment HSCR, the most prevalent form, is observed in approximately 80% of cases and primarily involves the rectosigmoid region. By contrast, long-segment HSCR, affecting the proximal sigmoid colon, accounts for 15%–20% of cases, while total colonic aganglionosis, characterized by the absence of ganglion cells throughout the entire colon, occurs in approximately 5% of patients. ¹

It is a hereditary disorder, with a positive family history seen in approximately 10%–20% of cases. While the condition affects both males and females, epidemiological studies indicate a male predominance, with a threefold higher incidence in males compared to females. Early diagnosis is essential for optimal outcomes, as delayed recognition can lead to complications such as enterocolitis and severe bowel obstruction. ²

This report presents a neonate with early yet atypical signs of HSCR, highlighting the importance of timely recognition, diagnostic modalities, and the role of surgical intervention in achieving favorable outcomes.

Case presentation

An 8-day-old male infant presented to the emergency department with a history of constipation and progressive abdominal distension. He was born full term at 39 weeks via spontaneous vaginal delivery without complications. Initially, he exhibited reduced feeding, which later improved. He was exclusively breastfed from birth. Parents reported passage of meconium in the newborn nursery; however, no stools were passed after day 4 of life. His last stool was minimal and required rectal stimulation. The infant exhibited no vomiting, lethargy, or fever.

On examination, the infant had a distended but soft abdomen, more pronounced in the lower regions, with a circumference measuring 41 cm—significantly larger than the expected 28–32 cm for his age (Figure 1), based on standard pediatric reference ranges (Nelson Textbook of Pediatrics, 21st Edition). ³

Figure 1.

Infant’s picture on presentation with abdominal circumference 41 cm.

Routine laboratory investigations, including a complete blood count and comprehensive metabolic panel, were unremarkable. Abdominal radiography revealed gaseous distension of the small bowel and colon with mild to moderate stool retention. A barium enema demonstrated no definitive transition zone, but suggested meconium plugs and distal bowel obstruction (Figure 2). A bedside suction rectal biopsy was performed, confirming the absence of ganglion cells along with hypertrophic nerve fibers, findings characteristic of HSCR and inconsistent with physiological aganglionosis. An upper gastrointestinal series revealed no additional abnormalities. Further testing, including sweat chloride testing, was negative, effectively excluding cystic fibrosis.

Figure 2.

Barium enema image.

Initial conservative management included nasogastric decompression and warm saline rectal irrigations. Despite these measures, the infant exhibited persistent abdominal distension and inadequate stooling, prompting pediatric surgical consultation. Given the biopsy-confirmed diagnosis of HSCR, the patient was transferred to an outside hospital for definitive surgical intervention. At the referral hospital, a confirmatory full-thickness rectal biopsy corroborated initial findings. Meconium plug syndrome was considered but ruled out based on biopsy results and clinical progression. Postoperatively, the infant demonstrated significant improvement with spontaneous stooling and resolution of abdominal distension. The family was counseled on postoperative care and long-term follow-up.

Discussion

This case is notable for the early age of presentation and the diagnostic challenges associated with HSCR in neonates who initially pass meconium. Initially, functional constipation was considered, given the infant’s early passage of meconium, lack of vomiting, and general clinical stability. However, the marked and progressive abdominal distension raised suspicion beyond typical neonatal constipation. Significant abdominal distension often indicates mechanical obstruction or motility disorders rather than functional constipation.

Although breastfed infants commonly demonstrate variable stooling patterns, the severity and progression of abdominal distension observed here were atypical, necessitating additional diagnostics, including rectal biopsy.

HSCR commonly presents with abdominal distension (>90%), bilious vomiting (>85%), and failure to pass meconium within 24 h of life (60%). ⁴ However, our patient falls within the 40% of cases where meconium passage occurs within the first 24 h, making the diagnosis more challenging. Given this variability, early diagnostic tools such as contrast enema and rectal biopsy remain crucial in identifying HSCR cases that do not follow the classic presentation.

Physiological aganglionosis, characterized by a temporary absence of ganglion cells in neonates younger than 2 weeks, was considered. However, the histopathological findings demonstrated a complete absence of ganglion cells and hypertrophic nerve fibers, consistent with HSCR and not physiological aganglionosis.

Conclusion

This case report contributes to the limited number of early-onset HSCR presentations and reinforces the importance of thorough evaluation for neonatal constipation. Clinicians should consider HSCR in any neonate with persistent bowel dysfunction despite an initial passage of meconium. Early diagnosis and surgical intervention can significantly improve outcomes, preventing complications associated with delayed management.