Adult Onset Hirschsprung's Disease With Overlapping Presentation of Sigmoid Volvulus: Two Case Reports With Literature Review at Tikur Ambessa Specialized Hospital, AAU, Ethiopia

ABSTRACT

Adult‐onset Hirschsprung's disease (HSD) is uncommon and frequently leads to diagnostic difficulty after infancy. It is a congenital illness that causes intestinal obstruction due to a lack of ganglion cells. Approximately 1 in 5000 live newborns have this illness, and 95% of HSD cases are identified in infants. This case report will fill a knowledge gap at a low‐resource setting where published papers on this topic are extremely rare, and will provide insight into diagnosis and surgical management options that are feasible in resource‐limited environments with good outcomes. In this case report, we present two cases of adult‐onset HSD having a history of persistent constipation that has been treated by laxatives for a long time, abdominal distention, and intermittent colicky pain. For one of the patients, exploratory laparotomy, sigmoid resection and colostomy was done with suspected diagnosis of sigmoid volvulus due to sign of obstruction. Despite this, the patient's clinical condition was not improved and was referred to our hospital for further work up and management. The patient was diagnosed with adult‐onset HSD at our hospital by biopsy from the rectum and colostomy site and managed as adult‐onset HSD. The other patient was deflated with a rectal tube with suspicion of sigmoid volvulus and later referred to our hospital. She was diagnosed with adult‐onset HSD by full‐thickness rectal biopsy after having a detailed history. She was surgically treated and discharged improved. A detailed history including childhood period was obtained, and a physical examination was performed. Basic investigations were done and within the normal range. Barium enema revealed a grossly distended proximal colon. Rectal biopsy was performed in all cases and showed aganglionosis at the stenotic segment. The Soave pull‐through procedure was performed along with a protective ileostomy. One procedure was laparoscopy assisted and the other one was open. Ileostomy reversal was performed later. In both cases, patient symptoms were completely resolved and had an uneventful condition at one‐year follow‐up at our hospital. Generally, adult HSD should be considered in the differential diagnosis of adult patients with chronic constipation or even acute bowel obstruction with a chronic background of constipation. Full‐thickness rectal biopsy is confirmatory for diagnosis. The Soave pull‐through procedure with protective ileostomy is a feasible surgical option for treating adult HSD.

Key Clinical Message

Adult‐onset Hirschsprung's disease should be suspected for patient presenting with chronic constipation with or without bowel obstruction based on getting detailed history including childhood periods. It's a delayed diagnosis rather than true adult onset. Full‐thickness rectal biopsy is diagnostic. Soave pull‐through with either open or laparoscopic‐assisted approaches with protective ileostomy suffices for its management.

1. Introduction

Hirschsprung disease (HSD) is a congenital condition characterized by the absence of intramural ganglion cells in a portion of the distal colon [1, 2]. It is caused by defective craniocaudal migration of neuroblasts originating from the neural crest during the first 12 weeks of gestation, resulting in functional intestinal obstruction and feces build‐up in the healthy, innervated bowel just upstream, causing it to become dilated [1, 3]. The majority of cases present during the neonatal period with failure to pass meconium and affect approximately 1 in 5000 live births with a 4:1 male predominance [4, 5].

Adult‐onset HSD is, by definition, diagnosed after the age of 10 years. These patients' affected aganglionic segment of the bowel is short or ultra‐short, leading to milder, chronic symptoms, and the proximal healthy colon is able to compensate for the non‐functional distal segment, allowing for a degree of bowel function and masking the severity of the condition [1, 2]. Before a diagnosis is made, patients typically endure years of suffering from constipation, and primary care physicians frequently overlook it because it is a rare diagnosis in adults [1, 6]. Laxatives and enemas are often prescribed to help patients manage this illness. However, some patients may eventually develop rapidly worsening constipation or even severe obstruction as a result of decompensating of the dilated proximal colonic segment due to distal obstruction [2]. It is usually mistaken for mechanical obstructions like volvulus, obstructing mass, intestinal parasite, or functional obstructions [7].

Barium enema shows a narrow, spastic distal segment with proximal dilatation in classic HSD. Diagnosis is established by full‐thickness rectal biopsy showing absent ganglion cells. Anorectal manometer may demonstrate the absence of a normal anorectal inhibitory reflex. The mainstay of treatment is surgery with goals to resect the affected segment, bring the normal ganglionic bowel down close to the anus, and preserve internal anal sphincter function [1]. We present two consecutive, single‐center, retrospective descriptions of adult‐onset HSD at Tikur Ambessa Specialized Hospital diagnosed and managed at the Colorectal Surgery Unit in 2025.

2. Case History/Examination

2.1. Case 1

36 years old male patient came to our tertiary hospital from a general hospital in southern Ethiopia. He was referred with assessment of the 6th post operative month after an exploratory laparotomy, sigmoidectomy, and End Colostomy was done for a large bowel obstruction secondary to sigmoid volvulus. He presented with chronic constipation with associated abdominal pain and intermittent nausea and vomiting which worsened over 1 month. The patient was referred to our hospital for colorectal evaluation and a better management plan. At presentation to our hospital, the patient had stable vital signs, a midline surgical scar, and was on colostomy; his abdomen was soft and moved with respiration. He was investigated with complete blood count (CBC), organ function tests (OFT), and serum electrolyte (SE) which were in the normal range. A barium enema was done and showed distal narrowing with proximal dilation with transitional point (Figure 1), and full‐thickness rectal biopsy (Figure 2A,B) was performed from the rectum and biopsy was taken from colostomy site. The results showed colonic epithelium lined tissue underneath the Meissner and myenteric plexuses composed of hypertrophic nerve bundles only; no ganglionic cells were observed. Sections from the colostomy site and blind‐end pouch site of the colon showed ganglion cells in both the submucosal and myenteric plexus.

FIGURE 1.

Barium enema. A Barium enema typically reveals a narrowed, spastic distal aganglionic segment and a markedly dilated, feces‐filled colon proximal to it, with an abrupt or cone‐shaped transition zone between the two segments.

FIGURE 2.

(A, B) Hematoxylin and Eosin Staining: (A × 20) photomicrograph showing absence of ganglionic cells in submucosal. (B × 10) photomicrographs showing ganglion cells are absent in the myenteric region at the interface between the muscularis externa and muscularis interna.

2.2. Case 2

21 years old female patient from northern Ethiopia who presented after failure to pass feces and flatus of 5 days. For these complaints, rectal tube deflation and enema were performed. She had a history of long‐standing intermittent abdominal pain, constipation, and distension for the past 3 years for which she was taking laxatives intermittently. She was advised on dietary modification, given bisacodyl 10 mg oral and referred to our hospital. At presentation to our colorectal surgery outpatient clinic, she complained of intermittent crampy abdominal pain and distension since childhood. On physical examination, the patient was comfortable with normal vital signs. Gastrointestinal examination revealed a flat abdomen which moved with respiration and no mass. Digital Rectal Examination revealed normal sphincter tone and fecal matter in the rectum. The patient underwent complete blood count, organ function tests, and serum electrolyte tests, which were within the normal range. A barium enema (Figure 3A,B) was performed which showed a transition zone at the rectosigmoid junction, dilated proximal colon, and narrowed rectum. Retained contrast on post‐evacuation images showed findings consistent with short‐segment aganglionosis. To assess adult‐onset HSD, a full‐thickness rectal biopsy was performed which showed the absence of ganglion cells in the myenteric and submucosal regions (Figure 4A–C).

FIGURE 3.

(A, B) Showed transition zone at the recto‐sigmoid junction, dilated proximal colon and narrowed rectum; retained contrast on post evacuation image with findings consistent with short segment aganglionosis (HSD).

FIGURE 4.

Hematoxylin and Eosin Staining: (A × 40) photomicrograph showing absence of ganglionic cells in submucosal. (B × 40, C × 40) photomicrographs showing ganglion cells are absent in the myenteric region at the interface between the muscularis externa and muscularis interna.

3. Differential Diagnosis

3.1. Sigmoid Volvulus

It accounts for 5%–10% of all large bowel obstructions worldwide, and endemic regions (“volvulus belt”) including Ethiopia, account for up to 50%–80% of large bowel obstruction cases. Elderly (> 60 years) in Western countries are mostly affected, but younger adults can be affected in endemic regions. Volvulus presents acutely with severe abdominal distension, pain, and obstruction, contrasting with the chronic progressive symptoms of Hirschsprung's disease. CT scan shows the whirl sign, and X‐ray shows the coffee‐bean sign. Rectal biopsy shows normal ganglion cells. The definitive treatment is sigmoid resection and anastomosis. In patients with adult onset HSD, volvulus may happen secondarily and not primary [1, 7, 8].

3.2. Chronic Functional Constipation (CIC)

Similar to adult‐onset Hirschsprung's disease, patients present with infrequent and incomplete defecation, long‐standing constipation since childhood, abdominal distension, fecal loading, and normal basic laboratory test results. However, CIC lacks the underlying aganglionosis but CIC typically responds to fiber, osmotic laxatives, and secretagogues, whereas Hirschsprung's disease requires surgical resection. The key distinction is that CIC shows normal ganglion cells on rectal biopsy and may demonstrate a normal rectoanal inhibitory reflex (RAIR), although 36.2% of adult patients with Hirschsprung's disease can have a weakly positive RAIR [9, 10].

3.3. Acquired (Secondary) Aganglionosis

Screening with serology for Trypanoma cruzi in endemic areas or patients from Latin America can diagnose it. Chagas megacolon results from acquired aganglionosis affecting 10%–15% of chronically infected patients mimicking Hirschsprung's disease with severe constipation and megacolon. Geographic history, long bowel segment involvement, and positive serology for infection can distinguish Chagas disease from congenital Hirschsprung's disease although both may show reduced ganglion cells [11].

3.4. Colorectal Cancer

While both conditions cause constipation and changes in bowel habits, colorectal cancer typically presents with hematochezia, iron‐deficiency anemia, tenesmus, mass, or acute obstruction, whereas adult Hirschsprung's disease has a more chronic course from childhood. CT imaging showing colonic wall thickening, lymphadenopathy, or mass lesions suggests malignancy over Hirschsprung's disease [7, 12].

Tropical/African Degenerative Leiomyopathy: its clinical presentation is often with a mean age around 9–10 years, with long‐standing abdominal distension, severe constipation, colicky pain, and intermittent diarrhea. In pathology, the disease is marked by smooth muscle necrosis and replacement fibrosis of the muscularis propria, typically in the colon. Unlike Hirschsprung's disease, ganglion cells are present [13, 14].

4. Outcome and Follow Up

4.1. Case 1

After bowel preparation, the patient was prepared for the operation and written informed consent was taken. Patient was taken to Major operation room (OR) and under general anesthesia (GA) and endotracheal tube (ETT), the patient was positioned in a modified lithotomy position. Abdomen and perineum were prepped and draped; abdomen entered through previous midline surgical scar.

4.1.1. Intraoperative Findings

There was non‐obstructive interloop adhesion; small bowel adhered to the anterior abdominal wall. Distended distal stamp visible at the pelvis and what was done was adhered distal ileum was gently released from the anterior abdominal wall; mobilization of the distal stamp up to the pelvic floor muscle anteriorly, posteriorly, and laterally; proximally, colon mobilization at splenic flexure and gastrocolic ligament until the bowel length is adequate to do coloanal anastomosis. Using lone star retractor incision made 1 cm above the dentate line and submucosal dissection done; the stamp resected; muscle left there and coloanal anastomosis performed. Abdomen was closed in layers after count confirmed correct.

At his postoperative period, the patient developed postoperative collection at his 1st postoperative week and ex‐lap + lavage + primary repair of anastomotic site + protective ileostomy was done and drainage was placed and the patient followed at the ward and was put on ceftriaxone and metronidazole. At his 5th pod after the 2nd surgery, the patient developed abdominal collection and relaparotomy and lavage were done and culture was sent for bacteriology and sensitivity and antibiotics were revised for meropenem. He was followed at the ward and his drainage output decreased significantly and his symptoms improved and he was discharged with ileostomy. Patient was followed at outpatient department (OPD) and at his 5th post op month, ileostomy reversal was done. Delay in ileostomy reversal was due to his low albumin level. After ileostomy reversal, the patient stayed at the ward for 6 days and had an uneventful stay and was discharged to follow up at colorectal surgery OPD and had follow up for 1 year without any constipation or other complications.

4.2. Case 2

Patient was prepared for laparoscopic assisted soave pull through procedure + protective ileostomy. After bowel preparation, patient was taken to OR with informed written consent. Under ETT/GA, patient was positioned in a modified lithotomy position. Abdomen and perineum were prepped and draped; abdomen entered via a 10 mm umbilical camera port, two right lower quadrant (RLQ) 5 mm ports and one 5 mm port in left lower quadrant (LLQ). Intraoperative findings: transitional zone at recto—sigmoid junction with proximal dilated and rectum was collapsed, secondary transition zone at proximal sigmoid.

Done: Sigmoid mobilization started medial aspect starting from sacral mesentery and continued proximally up to the level of secondary transition; Lateral mobilization along whiteline of Toldet up to splenic flexure. Sigmoid mesocolon was divided; rectal mobilization was done circumferentially along the holy plane down to the level of pelvic floor. Adequacy of length of bowel estimated for coloanal anastomosis. Position change to lithotomy and perineum cleaned and draped. With perineal approach: Lone star retractor applied; sub mucosal level dissection starting from 3 cm dentate line; ~5 cm cap and bowel was resected circumferentially and pulled through anal canal; proximal sigmoid was transected; coloanal end–end anastomosis with protective loop ileostomy was done. After count declare was correct, port sites closed. After being followed at PACU, transferred to surgical ward and put on prophylactic antibiotics, antipain and her abdomen was followed strictly.

At her 4th postoperative period she developed nausea, vomiting, abdominal distension. Imaging was taken and showed centrally dilated bowel with multiple air fluid level and prepared for relaparatomy for indication Small bowel obstruction 2ry to iatrogenic small bowel volvulus. After written informed consent was taken patient was taken to major OR and put under GA/ETT. Abdomen was prepped and draped. Abdomen was approached through midline laparotomy incision. IOF: there was 720° malrotated small bowel on its mesentery in an anticlockwise wise manner; there was patch ischemia, decrease persislitic activity 20 cm proximal to the ileostomy. What was done was small bowel was immediately de rotated in the opposite direction and hot pack compression was applied for 20 min and after returning of bowel color to pink and increased peristaltic activity, and abdomen was closed in layers. Patient was extubated on table and transferred to PACU. She was started on ceftriaxone and metronidazole, paracetamol 1 g iv qid, diclofenac75 mg Im bid. Her vital sign and abdominal condition was strictly followed at surgical ward and her symptoms improved and discharged after 1 week follow up at surgical ward for colorectal surgery OPD follow up. Her follow up was uneventful at surgical opd and she was admitted at her 2nd post operative month after index surgery for ileostomy reversal. Ileostomy reversal was done and her abdominal condition was followed at ward for 7 days post operatively and it was uneventful. She was discharged from ward to be followed at colorectal surgery OPD. She was followed at colorectal OPD for 1 year and had uneventful condition.

5. Discussion

Adult‐onset Hirschsprung's disease (HSD) is rare and often presents with chronic constipation or bowel obstruction—symptoms that overlap both clinical presentation and radiological findings with other colonic disorders such as redundant sigmoid colon, acute bowel obstruction due to sigmoid volvulus, and functional or mechanical bowel obstructions. This mimicking presentation can lead to misdiagnosis or delayed diagnosis [15, 16]. Both of our patients had identical clinical presentations with different levels of severity, with symptoms starting in childhood and getting worse as they grew older. In our case report, both were treated at general hospitals, with sigmoid volvulus by emergency surgery for male patients and rectal deflations for female patients. Due to unresolved clinical problems, both were referred to our hospital. Adult‐onset HSD was made at our hospital for both by high suspicion of their clinical condition and using barium enema and full thickness rectal biopsy. Soave pull‐through with protective ileostomy was done as definitive management.

Since Ethiopia is at the ‘volvulus belt’, where the condition accounts for 20%–50% of all bowel obstructions [17, 18], adult onset HSD can be underlooked and its misdiagnosis associated with complications which can affect patient health related quality of life and become financial burden for patient. Following sigmoid volvulus, colorectal cancer is the second commonest cause of large bowel obstruction in here Ethiopia [19]. Colorectal cancer can be ruled out by taking thorough history, physical examination and doing colonoscopy and imaging based on patient clinical condition. Other mechanical or functional obstructions can be ruled out by high clinical index of suspicion based on thorough patient history and physical examination.

Despite advance on diagnosis on Hirschprung's diseases, there are condition where it was detected in adulthood period. The first documented case of Hirschsprung's disease in an adult was reported by Rosin and colleagues in 1950 for a 54‐year‐old male found to have a short aganglionic segment of the bowel [2, 20]. This is due to unusual illness variations, partial compensation, milder versions, overlooked or misdiagnosis. For instance, when the aganglionic section is short, the remaining part of the colon might partially compensate and adapt for reduced motility. This may lead to years of treatable chronic constipation, delaying diagnosis. Over time, this compensation fails, leading to complications like severe constipation, abdominal distension, or acute obstruction in adulthood. Misdiagnosis or overlooked symptoms is another cause for adulthood diagnosis; for example, chronic constipation in childhood may be attributed to functional or dietary causes leading to underdiagnosis [16]. Other causes may be due to variability in genetic mutations (such as those in RET, EDNRB, or other genes) that might affect the disease's penetrance and severity. Certain genetic variations may produce atypical or less severe versions, enabling survival into adulthood without typical neonatal or infant period manifestations [21, 22, 23, 24].

Diagnosis of adult onset HSD can be made by detailed history taking and physical examination with imaging like barium enema and CT scan; anorectal physiology studies like anorectal manometry; defecography, and histopathologic studies like full‐thickness rectal biopsy which is gold standard; acetylcholinesterase (AChE) staining, calretinin immunohistochemistry, and intraoperative frozen section also can be used in diagnostic difficulties [1, 7]. We have used barium enema, full thickness rectal biopsy and other basic investigation after high index of suspicion based on patient history.

Harald Hirschsprung initially identified hirschsprung's disease as a congenital megacolon in 1886. His diagnosis was based on an autopsy that revealed a grossly dilated colon with a limited distal section and he believed congenital dilatation and hypertrophy of the colon were the main causes of the disease consistently referring to it as congenital dilatation of the colon in his publications though there was ancient documentations from ancient Hindu physician and other more than 20 publication about this condition since 1691 to 1888 [25, 26, 27, 28]. In 1901, Karl Tittel was the first to demonstrate, histologicall, the absence of ganglion cells and the thickened, narrowed rectum in these cases, he had published in a weekly journal in Vienna [25, 26, 27, 28, 29]. However, he was not yet aware that the underlying cause of the disease was aganglionosis [30]. Finally, the disease was discovered to be caused by aganglionosis, and it was also shown in the 1948 study by Whitehouse and Kernohan that Tittel was the first author to show rectal aganglionosis which allowed rational surgical planning [25, 27, 28].

Between 1950 and 1970, diagnosis of HSD was based on clinical symptoms (delayed meconium, abdominal distension), full‐thickness rectal biopsy to confirm aganglionosis, and contrast/barium enema to view the transition zone [31, 32, 33, 34]. Less invasive sampling became possible with the development of rectal suction biopsy (RSB) for neonates and infants in the 1970s, and acetylcholinesterase (AChE) staining emerged as a crucial method for identifying aganglionic segments [33, 35, 36, 37]. Since 2000 [38, 39] immunohistochemical markers such as calretinin, S‐100, peripherin, and PHOX2B have increased diagnostic accuracy, particularly in difficult or unclear situations [40, 41, 42, 43].

The first reliable treatment for HD was developed in 1948 by Swenson and Bill, which is the Swenson pull‐through procedure. It involves resecting the aganglionic bowel and anastomosing the normal gut to the anal canal. This era showed a significant change from treating symptoms to definitive cure, which significantly reduced mortality and established itself as the gold standard for several decades [34, 44, 45, 46]. Early treatment depended on multi‐stage open surgeries (such as the Swenson, Duhamel, and Soave procedures), which included a colostomy at first, followed by resection and pull‐through of ganglionic bowel [33, 47, 48]. The introduction of transanal endorectal pull‐through (TEPT) and laparoscopic‐assisted approaches in recent decades has reduced operative trauma, hospital stay, and recovery time, with comparable or improved functional outcomes [33, 47, 48].

Postoperative complications can happen for some patients. Constipation, fecal incontinence, and soiling are common long‐term sequelae of persistent bowel dysfunction. While some studies suggest improvement with age, others describe permanent or worsened symptoms in adulthood [14, 49, 50]. Recurrent symptoms and the need for reoperation may result from additional complications brought on by mechanical obstruction from strictures, residual aganglionosis, or transition zone disease [51, 52, 53]. Enterocolitis and other uncommon sequelae are still a major postoperative concern, particularly in patients with poor mucosal innervation or insufficient resection [54, 55].

Our patients treated by one stage operation (i.e., resection of aganglionic segment and coloanal anastomosis was done at same operation) by Soave pull through procedure with protective ileostomy. By type of operation, our first patient operated by open surgery and second patient was operated by laparoscopic assisted soave pull through procedure with protective ileostomy. Ileostomy was reversed for one patient within 2 month postoperative period and other male patient 5th postoperative period due patient low serum albumin level. We followed both patients for 1 year and their postoperative period was uneventful.

Usually single‐staged resections were carried out in healthy patients without concerns. If the bowel significantly distended with edema or developed gangrene or perforated, Hartmann's colostomy was recommendable at the initial operation. When patient conditions and bowel caliber improved, coloanal anastomosis was done at the second operation. This is called a staged operation. A staged operation could be one, two, or more based on patient clinical condition and bowel caliber for anastomosis [7].

In conclusion, patients with a history of chronic refractory constipation since childhood and a dilated proximal colon with a transition zone and a narrowed distal colonic segment by imaging, adult onset HSD should be taken into consideration in differential diagnosis. Rectal full thickness biopsy is confirmatory for diagnosis. Open or laparoscopic assisted one stage soave pull through procedure with protective ileostomy suffice for management.

Author Contributions

Abel shiferaw Tesfaye: conceptualization, formal analysis, investigation, supervision, validation. Samson Yadeta Murre: conceptualization, data curation, investigation, validation. Mikiyas Olani Kebede: conceptualization, investigation, methodology, resources. Isa Salo Abdo: software, validation, visualization. Mulugeta Temesgen Bonger: software, visualization. Abel Daniel Kuche: conceptualization, data curation, formal analysis, investigation, methodology, software, validation, writing – original draft, writing – review and editing.

Funding

The authors have nothing to report.

Ethics Statement

The authors have nothing to report.

Consent

Written informed consent from both patients was obtained for publication of the case reports.

Conflicts of Interest

The authors declare no conflicts of interest.

Data Availability Statement

Patient basic investigations are available and can be uploaded if there is request.