Congenital Aganglionic Megacolon”: A Rare Case Report of Hirschprung Disease with Recurrent Surgical Complications

Disorders that occur as a result of faulty neural crest cell formation are known as neurocristopathies. One of such disorders is Hirschsprung Disease (HSCR), or congenital mega colon, or intestinal aganlionosis.[1] Its global range incidence is from 1 per 2,000 live births, but the most frequently reported incidence rate is 1 per 4,000 live births. [2] It may be associated with various gene mutations like RET, GDNF, EDNRB, SOX10, and PHOX2B, among others. [3] HSCR is a congenital disease characterized by the lack of ganglion cells at Meissonier’s plexus of the submucosa and Auerbach’s plexus of muscularis. [4] Also referred to as congenital aganglionic mega colon. [5] It is caused by the failure of enteric neural crest cells to complete their craniocaudal migration to the gut wall early in embryogenesis. [6] It largely involves males, with a ratio of male-to-female = 4:1. [7] HSCR is an uncommon congenital disease largely involving newborns and pediatrics. This condition can lead to functional bowel obstruction in the form of megacolon, chronic constipation, recurrent colitis, or a potentially life-threatening risk of perforation. [8] The contrast enema is the initial diagnostic procedure of choice. It well demarcated the transition zone between the narrow aganglionic bowel and dilated normal bowel. A rectal biopsy is another essential diagnostic test that demonstrates the absence of ganglion cells in the intestinal wall.  [9] Despite the fact that some of the colon without nerve cells is cut out in an operation to correct HSCR, several extra mucosal colonic biopsies and initial diversion in the type of a colostomy are usually necessary before definitive surgery can be undertaken.  [10] Having a colostomy severely affects one's quality of life. [11] The most commonly performed procedures for HSCR are Duhamel retro rectal pull-through, Soave endorectal pull-through modified and full thickness Swenson pull-through. Obstructive symptoms post-operatively are one of the most frequent complications. [12] Peinold et al. found early physiotherapy beneficial in decreasing post-operative complications and avoiding failure in abdominal surgery. We identified significant obstructive symptoms in our own case study. The main goal of this case was to present an overview of the HSCR phenotype, diagnosis, and treatment options; discuss the primary genetic causes and how they disrupt normal enteric neural crest cell development; and explore new pathways that may contribute to the pathophysiology of HSCR. Early physiotherapy intervention is important in decreasing complications following surgery and avoiding failure of abdominal surgery.

CASE PRSENTATION:

An 8-year-old girl with a history of chronic constipation, otherwise healthy at birth, was diagnosed with Hirschsprung disease (HSCR) in November 2023 at Santhiram General Hospital. She was born vaginally at term without any significant neonatal complications. [13] During the neonatal period the patient had stage-1 surgery, where the diseased bowel was removed. On November 14, 2023, a leveling colostomy was done to decompress a severe HSCR-induced bowel obstruction. She had symptoms of intermittent fever, mild pedal edema, abdominal pain localized to the right lower quadrant and loose stools in May 2024. Abdominal imaging showed fluid-filled, edematous loops of the bowel, mild fat stranding in the hypogastrium on the left, and minimal right pleural effusion. The recto-sigmoid resection pathology report confirmed the lack of ganglionic cells, which is typical of HSCR. A barium enema contrast study showed a narrowed distal segment and a dilated proximal colon, which confirmed the diagnosis. Acute intestinal obstruction and fecal peritonitis were diagnosed in the patient. An in-situ ileostomy with a drain was established on May-1, 2023. After the ileostomy, the child had two episodes of bilious vomiting and an increasing fever. On May-6, 2024, Soave’s pull-through procedure was performed as two-stage pull-through procedure (TERPT). [14] During the post-operative course, the patient had a dehiscence of the abdominal wound with puss drainage, which required consultation with a plastic surgeon. Additional investigation showed disseminated intravascular coagulation (DIC), fecal peritonitis, right lower lobe consolidation, and mild pleural effusion. Therefore, debridement of the abdomen was done [15] Seven months after that, the patient presented with evidence of a colonic leak and an open wound in the abdomen, even though she was on ileostomy. The leak was diagnosed as closed colonic leak, and the abdomen and flap grafting were repaired. [16] A chronological sequence of these events is given in Table 1.

CASE DISCUSSION:

This 8-year-old female patient with a history of Hirschsprung disease, a congenital condition due to abdominal migration of the neural crest cells, presented with bilious vomiting and focal abdominal pain. She had a history of leveling colostomy and bowl resection for HSR with chronic constipation. On she was found to have tachycardia (PR: 52CPM), dehydration (dry oral mucosa), stupor, and hypotension (BP: 100/50), and an abdominal low blood glucose level (GRBS: 52 mg/dl), indicative of sepsis or metabolic dearrangement. Her body temperature was 100.5⁰C. A Systemic examination revealed abdominal tenderness, crisp breathe sounds (RS: BAE+), and normal heart sounds (CVS S1S2+), but normal neurological tone in plantar flexors. Microscopic findings confirmed aganglionic segments in the rectum, sigmoid colon, and anastomic regions. Contrast enema X-ray demonstrated the characteristic dilated proximal colon and narrowed distal segment, indicative of functional obstruction, an abnormal recto-sigmoid ratio with a short rectum, in favor of HSCR. Abdominal and chest ultrasound revealed fluid-filled edematous bowel loops, mild fat stranding, and minimal right pleural effusion. Management included a combination of broad-spectrum antibiotics (Meropenem 1 gm. IV TID, Piperacillin-Tazobactam 1.6 gm. IV BD, Metronidazole 350 mg TID), proton pump inhibitors (Pantoprazole 20 mg IV BD), and analgesics (Tramadol 25 mg IV in 500 ml NS, Ketorolac 1 cc in 4 ml NS SOS) for analgesia, Vitamin C (Limcee 500 mg IV OD),  Faropenem (200 mg TID), Zincovit syrup (5 ml OD), and Taxim (40 mg/kg BD) for immunity building and prevention of infection. Paracetamol (Dolo 650 mg, _1/2-tab SOS) was prescribed to control pain and fever. This comprehensive treatment regimen addressed the patient’s infection risk, metabolic disturbances, and pain, with appropriate observation.  

Table 2. Abnormal Lab investigation seen in Patient.

Figure-1

Figure-2

Figure: No: 1. Contrast Enema X-ray showing colonic dilation narrowed aganglionic segment (Indicated by the red arrow).

This contrast enema X-ray shows a clear difference between the dilated proximal colon and the narrower distal segment. This indicates a functional obstruction due to aganglionosis and highly suggests the Hirschsprung disease.

Figure: No: 2. Contrast Enema X-ray demonstrating Transition Zone (indicated by the red arrow).

This illustrates the patient with colonic dilation and demonstrating transition zone. The abnormal colonic motility is evidenced by the abrupt change in diameter and delayed evacuation of the contrast material. The aganglionic segment stays tightly contracted, blocking stool flow and showing the stretched, enlarged mega colon above the blockage. And also highlights the thin, non-functional bowel segment lacking nerve cells

Figure-3