1. Introduction

Hirschsprung disease (HD), characterized as gastrointestinal neuromuscular pathology, is a congenital disorder that affects 1 child per 5000 births [1]. Also known as congenital aganglionic megacolon. It happens when neural crest cells don't move to a certain part of the colon, which means no ganglionic cells are in the nerve plexus [2]. The disease can be broken down into five types based on the length of the colon: short segment, long segment, very (ultra) short segment, total colonic aganglionosis (TCA), and pan-intestinal aganglionosis. This leads to a loss of intrinsic excitatory and inhibitory innervation, which makes the aganglionic segment, which includes the internal anal sphincter, spasm and contract, making it hard to move the intestines and go to the bathroom. The proximal healthy bowel undergoes hypertrophy and dilation [3].

Clinical history, barium enema, anorectal manometry, and rectal biopsy aid in diagnosing HD. Rectal suction biopsy remains the gold standard for confirming HD diagnosis. The full-thickness rectal biopsy shows that the distal rectum does not have any ganglionic cells and that the length of the continuous proximal intestine changes. This condition appears in both males and females, but in a 3:13 ratio [4]. Rectal examinations and enemas can relieve chronic constipation, intestinal obstruction, or abdominal distension that most children present with before they turn one. The diagnosis of HD in adults is rare, as it more commonly affects children. Until proven otherwise, we should suspect HD in any full-term neonate who has not passed meconium within 24-48 hours [5]. Surgical removal of the aganglionic segment of the intestine by the Duhamel procedure is the inevitable approach. With the advancement of procedures, the mortality rate has dropped significantly, yet 1 to 10% of patients may suffer from postoperative enterocolitis [6].

We present a case report of an 8-year-old male child who received successful treatment within the first few days of the condition's discovery, preventing serious complications.

2. Case Presentation

An eight-year-old male child presented to the outpatient department with chief complaints of chronic constipation, distended abdomen, abdominal pain, and loss of weight for five days. The patient had a twin brother who died at the age of six due to unmanaged diabetes complications.

2.1 Physical examination

On admission, the patient looked unwell but had normal vital signs (temperature, 36.4 C; blood pressure, 128/72 mmHg; pulse, 86 beats/minute; respiratory rate, 30 breaths/minute; oxygen saturation, Spo2: 98% room air). The patient's congenital talipes equinovarus remains uncorrected. Weight was 15 kilograms. The patient exhibited bilateral airway breathing without any crackles. Chest wall auscultation revealed S1 and S2 sounds. The abdomen was soft and nontender. At the time of presentation, the abdominal girth measured around 51 centimeters, and after six hours, a tape measurement revealed it was around 58 centimeters.

2.2 Laboratory findings

We performed the initial blood tests, which included a complete blood count, a serum electrolyte Table 1, and a serum widening test Table 2. The complete blood count and serum electrolytes were normal. Furthermore, the serum widening test was positive.

Legend: Normal serum electrolytes levels

Table 1: Serum electrolytes.

Legend: Positive > 1:80 titre, presence of antibodies against Salmonella species. Negative <= 1:80 titre, no antibodies to Salmonella or antibodies have not yet reached detectable levels

Table 2: Widal test.

An examination of the stool revealed a normal brown color, the absence of blood, pus, and parasites, negative results from occult blood tests, and the occasional appearance of epithelial cells. We performed an x-ray of the abdomen while standing, indicating the presence of air in the bowel loop (Figure 1). The next day, a repeat x-ray confirmed the findings, revealing bowel loop distension with diffuse air (Figure 2).

Figure 1: X-ray of the abdomen in standing position.

Figure 2: A repeat x-ray of abdomen in standing position after 1 day.

We performed abdominal and pelvis ultrasonography for further investigation, which revealed gaseous distension of the bowel loop with fecal-loaded dilated sigmoid colon and rectum (Figure 3).

Figure 3: Ultrasonography of abdomen and pelvis.

The contrast-enhanced computed tomography of the abdomen and pelvis showed content-filled, distended bowel loops and a dilated colon (Figure 4 and Figure 5).

Figure 4: Contrast-enhanced computed tomography of the abdomen and pelvis.

Figure 5: Contrast-enhanced computed tomography of the abdomen and pelvis.

A full-thickness biopsy of the rectum confirmed the disease (Figure 6).

Figure 6: A full thickness biopsy of rectum.

2.3 Management

The patient presented with complaints of chronic constipation, distended abdomen, abdominal pain, and loss of weight. We recommended CBC, serum electrolytes, serum widal, stool examination, urine routine and microscopy test, USG (Abdomen-Pelvis), X-ray (Abdomen Standing), and abdominal girth charting then he was admitted to the pediatrics ward for further management. The USG report indicated fecal blockage and feces-loaded dilated colon and rectum, prompting the administration of a proctoclysis enema. Along with it, the patient tested positive for typhoid; hence, intravenous administration of injection ceftriaxone (which inhibits bacterial cell wall synthesis and cell division), injection metronidazole (which causes bacterial cell death and decreases the rate of mortality by typhoidal perforation), injection pantoprazole (which decreases the acid formation in the stomach), and injection dartal is given to relieve anxiety. Tablet sporolac along with tablet zinc is given, Tablet sporolac being a probiotic it enriches the gut flora, administration of dextrose normal saline 5% w/v is done to replenish the fluid stores in the body, and a ryle tube is inserted for feeding. We recommended the MSCT of Abdomen and Pelvis to the patient's family, but they declined to give their consent. After a few days of counseling and observing the child's very slow improvement, they consented to the MSCT, which revealed multiple dilated small bowel loops suggestive of bowel loop obstruction. A sigmoid colonoscopy was performed, and a deep biopsy with mucosa and submucosa approximately one centimeter wide and two centimeters long was taken, starting one and a half centimeters above the dentate line. The pathologist confirmed that the child has Hirschsprung disease, based on the absence of ganglion cells and abnormal neurological findings. We continued the patient on broad-spectrum antibiotics and performed aggressive colonic irrigations until the child met his feeding goals. A group of pediatric surgeons then counseled the patient and the family for a Duhamel procedure, but the family was not ready for the surgery.

3. Discussion

Hirschsprung's disease is a common cause of functional intestinal obstruction in neonates. The lack of ganglion cells in Meissner's plexus and Auerbach's plexus (the enteric nervous system) of the intestines is caused by a birth defect in the migration of neural crest cells [7,8]. Hirschsprung disease, a multifactorial disease, is present in both syndromic and, in some cases, non-syndromic cases. Some have autosomal dominant inheritance, while others have autosomal recessive inheritance [9]. Patients diagnosed with adult Hirschsprung disease are over 10 years of age [10].

The diagnosis of Hirschsprung’s disease in developed countries usually occurs within the first year of life. Various diagnostic modalities are available to diagnose HD. An X-ray of the abdomen in a standing posture could reveal features indicative of bowel loop obstruction. People often do gastrointestinal contrast studies. Signs of HD include the presence of the transition zone, a change in the recto-sigmoid ratio, irregular mucosa, irregular contraction, and contrast retention that lasts for more than 24 hours. Another diagnostic modality that supplements the diagnosis is anorectal manometry. However, a rectal biopsy typically confirms the diagnosis by showing an absence of GC in the submucosal and myenteric plexus, along with hypertrophy of nerve fibers in the aganglionic segment [8,11,12]. Our patient underwent an X-ray of the abdomen, which showed the presence of air in the bowel loops and distension of segments suggestive of bowel loop obstruction. We also performed an ultrasound, which revealed a fecal-loaded, dilated sigmoid colon and rectum. We further confirmed these findings on contrast-enhanced computed tomography of the abdomen and pelvis. We took a deep biopsy that included the mucosa and submucosa, measuring 1 cm in width and 2 cm in length, starting 1.5 cm above the dentate line. The histopathological report, which revealed the absence of ganglion cells and abnormal nerve findings, confirmed the diagnosis.

There are several differential diagnoses that could be considered in patients presenting with symptoms similar to HD. There are several possible diagnoses based on the presence of ganglionic cells in a rectal biopsy. These include hypoganglionosis, intestinal neuronal dysplasia (IND), especially type B, internal anal sphincter achalasia (IASA), and megacystis microcolon intestinal hypoperistalsis (MMIHS) [13]. Though the presenting features of these conditions significantly overlap those of HD, results from diagnostic tests help rule them out. In our case, the absence of ganglionic cells on rectal biopsy favors the diagnosis of HD over others.

To treat Hirschsprung disease, surgery basically involves cutting out the aganglionic segment and pulling the innervated segment down to make the rectum [12]. Researchers extensively describe and study the Swenson, Duhamel, Soave, and Lynn procedures as the most effective surgical techniques for managing Hirschsprung disease in both infants and those with later diagnoses. A review of the literature seems to favor the Duhamel procedure over other surgical techniques, showing fewer postoperative major complications and better long-term outcomes [10,14,15]. Since milder forms of the disease are associated with late-diagnosed HD, symptomatic treatment can manage them while the non-diseased proximal colon compensates adequately [15]. These patients often obtain symptomatic relief with a low-residue diet, laxatives, colonic irrigations, and antispasmodics. We conservatively managed our index patient with dietary modification, aggressive colonic irrigations, and intravenous antibiotics, achieving satisfactory outcomes. A group of pediatric surgeons recommended a Duhamel procedure for the patient, but the family wasn't prepared for it.

Follow-up protocols for Hirschsprung disease focus on long-term surveillance, monitoring for complications, and ensuring comprehensive care. This involves regular evaluations by pediatric specialists to track growth, bowel function, and nutritional status, as well as vigilance for issues such as enterocolitis, chronic constipation, or fecal incontinence [11]. Pediatric specialists provide nutritional support to address feeding issues and ensure proper nutrition. Psychosocial support is critical for addressing emotional well- being and quality of life, and genetic counseling may be necessary to understand the disease's hereditary aspects. It is essential to prepare the child for self-care and ongoing management during adolescence and adulthood. Tailoring these protocols to each child’s specific needs and maintaining continuous coordination among healthcare providers ensures effective and comprehensive care [16,17].

The case report highlights the challenges and successes of managing Hirschsprung disease in a child diagnosed at age 8, which is unusually late compared to the typical infancy diagnosis. Conservative methods, such as dietary changes, laxatives, and rectal irrigations, effectively managed the child's symptoms, avoiding immediate surgery. Remarkably, despite the late diagnosis, the child did not suffer severe complications such as enterocolitis or bowel obstruction. The report emphasizes the importance of long-term follow-up to monitor for potential complications, as well as the need for thorough patient and family education to manage the disease's chronic nature and ensure adherence to treatment strategies.

The case report has several limitations, including being based on a single-center experience, which affects the generalizability of the findings. It represents only one case, limiting broader conclusions about treatment outcomes. There is also a lack of comparative data with surgical or other treatment options, and the follow-up period may be too short to capture long-term outcomes. Potential biases in choosing conservative management over surgery could influence results, and the absence of genetic testing restricts understanding of underlying causes. Additionally, the case-specific details may not apply to all children with Hirschsprung disease, highlighting the need for further research with larger sample sizes and longer follow- ups.

4. Conclusions

This case reinforces knowledge of Hirschsprung’s disease, which presents in older children with complaints of chronic constipation. Prognosis is extremely important for severe symptoms when treatment begins immediately after the diagnosis, as the condition worsens if left untreated. While it is a rare disease, awareness of its potential presentation is required in pediatricians so as not to miss this entity with severe morbidity when diagnosis is delayed. This case is special because the child is not an infant but an 8-year-old and was successfully treated with medication after the diagnosis had been made and without having to undergo surgery. This example emphasizes the necessity for healthcare professionals to rule out Hirschsprung's disease when making a differential diagnosis for patients with chronic constipation and abdominal distension, regardless of the patient's age, in order to provide prompt and efficient treatment.

5. Disclosures

Human subjects: Consent was obtained or waived by all participants in this study.

Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work.

Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work.

Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

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