A Rare Case Report of Hirschsprung’s Disease-simulating Volvulus on Plain Radiography

The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Colonic Volvulus and Acute Colonic Pseudo-Obstruction.

Sigmoid volvulus is a rare presentation of Hirschsprung's disease. A 38-year-old male presented with acute intestinal obstruction and a history of chronic constipation since childhood. Abdominal radiographs showed megarectum and megacolon with dissipated feces. Sigmoidoscopy revealed gangrenous bowel mucosa affecting the sigmoid colon. Emergency laparotomy revealed a grossly dilated bowel with concurrent gangrenous sigmoid volvulus. He was treated successfully with proctocolectomy with J-pouch-anal anastomosis and a defunctioning ileostomy. Histological analysis was consistent with short segment Hirschsprung's disease. Although uncommon, adult Hirschsprung's disease is a cause of chronic constipation and can present acutely with a sigmoid volvulus. Mortality in cases with sigmoid volvulus is greater than in cases without (15.4% vs. 0%). A better awareness of this condition will facilitate management.

Hirschsprung disease presenting as sigmoid volvulus: a case report and review of the literature

Objective To compare the X-ray features between Hirschsprung alied disease (HAD)and Hirschsprung disease ( HD), and analyze the differentiations. Methods From December 2004 to December 2009, nineteen cases of HAD, aged from 30 days to 10 years (median, 14 months), received barium enema examinations in our institution. Other 19 cases with HD, also received barium enema examinations, were chosen randomly. They were aged from 42 days to 8 years ( median, 8 months). The imaging features of HAD and HD were analyzed retrospectively. The incidence rate of colon stenosis,truncation sign and spasm notch and R/C ratio (the longest diameter of rectum/colon) were calculated and compared between these two groups. In all these cases, diagnosis was confirmed by postoperative histopathology. The position of barium retained was also evaluated. These parameters of both groups were compared by x2 and Fisher test. Results There was statistical significance in the incidence rate of colon stenosis between HAD (9/19) and HD (18/19) (x2 = 10.364, P ＜0.01). However, there was no statistical significance in truncation sign and spasm notch between HAD (4/19 and 3/19, respectively)and HD ( 1/19 and 1/19, respectively) (P ＞0. 05 for both). R/C ratio was 0. 42 ±0. 15 in HAD group and 0.29±0. 12 in HD group, and there was statistical significance between them (t =2.892,P＜0.01). In HAD group, barium retained in distal sigmoid colon in 1 case (1/19), in distal descending colon in 7 cases (7/19), in distal transverse colon in 1 case (1/19), in total colon in 6 cases (6/19); However, in HD group, barium retained in distal rectum in 3 cases (3/19), in distal sigmoid colon in 13 cases ( 13/19), in distal descending colon in 3 cases (3/19). Conclusions There were some differences in the imaging features between HAD and HD though they presented similar clinic experience. HAD cases presented a lower incidence rate of colon stenosis and a higher R/C ratio than HD cases. In HAD cases, the most common site of barium retained is distal descending colon, while in HD cases, it is distal sigmoid colon. Key words: Hirschsprung alied disease; Hirschsprung's disease; X-ray

Hirschsprung’s disease (HD) or “congenital megacolon” is a congenital developmental disorder characterized by the absence of ganglion cells in the distal intestine with variable proximal extension. HD affects approximately 1 / 5,000 live births and is more common in males (M: F = 4: 1). According to the proximal extension is possible to indentify different forms of HD: ultrashort, short segment or classical form, long segment and total colonic aganglia. Most children with HD (50-90%) are diagnosed in the neonatal period. Typically the infant with HD is born at term and present with failure to pass meconium.When there is a clinical suspicion of HD, diagnostic investigations to be performed include: radiologic evaluation (plain radiographs, barium enema), anorectal manometry, rectal full-thickness biopsy or serum-muscle and / or rectal biopsy by suction (Rectal Suction biopsy - RSB).There are numerous surgical techniques described for the treatment of HD. The most commonly performed, and therefore considered “the major pull-through procedures”, are: Swenson rectosigmoidectomy, Duhamel retrorectal transanal pull-through, Rehbein pull-through with anterior colorectal anastomosis, Soave rectosigmoidectomy with aseptic endorectal colon pull-through.Early postoperative complication is represented by colo-anal anastomosis dehiscence (3.2%) which, if not massive, is solvable conservatively. Late postoperative complications are HAEC and colo-anal anastomosis stenosis.On rare occasions the child may require a RedoPT procedure. Indication for RedoPT in the recent review was most commonly for a retained aganglionosis/transition zone pathology (RA/TZP; 71% overall ). Other indications included stricture/obstructing Duhamel pouch (19%), excessively tight cuff (8%), twisted-PT (4%). Operative approach can vary widely and is heavily dependent on type of complication, underlying pathology, previous surgical history as well as surgeon preference as to the type of repair. Complications are quite similar after redo-PT compared to primary PT in experienced hands but stooling outcomes are significantly worse compared to those after a primaryPT. Importantly, continence is still retained in the majority of children.

Hirschsprung's disease (HD) is a rare congenital disease characterized by the absence of ganglion cells in the distal rectum and which is usually diagnosed in early childhood. We speak of Hirschsprung’s disease of adults in patients where the diagnosis was made after the age of 10 years, it is a rare but not exceptional condition. This should be borne in mind in young adults with a history of chronic constipation. Due to the rarity of Hirschsprung’s disease in adults, patients are rarely referred for evaluation, including rectal biopsy, further delaying diagnosis. The elements of the diagnosis are primarily clinical. The basic treatment for Hirschsprung's disease recognized in adulthood is surgical resection of the lymph node segment of the intestine with the intention of creating an anastomosis with healthy and properly innervated tissue. In this regard, we present the case of a 22-year-old young man, followed in the gastro-entero-hepatology department at the Arrazi hospital of the Mohammed VI University Hospital in Marrakech for aetiological assessment of a chronic constipation of terminal appearance, complicated by 2 episodes of sigmoid volvulus resolved by rectal probe detorsion, the rectal biopsy of which revealed aganglion in favor of Hirschsprung’s disease.

Introduction:  Hirschsprung’s disease (HD) is definitely a childhood disease as it is the most frequent cause of bowel obstruction in the newborn and in the child whereas it is rare in adults and it is thus often undiagnosed or misdiagnosed. Objective: Through this series of 12 cases of HD we try to study the clinical characteristics of this pathology, to define its diagnostic clues and to assess the different therapeutic approaches. Materials and Methods:  This is a series of 12 patients referred to our department by the emergency department of HABIB THAMEUR hospital in Tunis for acute bowel obstruction. Ten of them had selectively a lateral discharge colostomy. One patient had a peritoneal lavage and the Hartman colostomy for a stercoral (fecal) peritonitis following perforation of the sigmoid colon. One patient had a peritoneal lavage and the Bouilly Wolkman double stomy for a stercoral peritonitis following perforation of the left colon. Anorectal manometry was performed in 25% of cases only. It revealed in each patient the absence of recto-anal inhibitory reflex (RAIR). Definitive diagnosis is established on histology of specimens from the rectum and colon. The disease involved the rectum and the sigmoid colon in 2 patients and was confined to the rectum, in the 10 others. Treatment was in all cases surgical consisting of recto-colic resection associated with coloanal anastomosis and a protective right lateral ileostomy. Histology of the operative specimens confirmed the diagnosis of HD. Conclusion: Hirschsprung’s disease is rare in adults but by no means exceptional. It should be considered in young adults with a history of chronic constipation. Diagnosis is first of all clinical. When barium enema appearances are pathognomonic we needn’t resort to histology to confirm the diagnosis. Anorectal manometry does not usually show RAIR. Current primary treatment of HD diagnosed in adults consists mainly of surgical resection.

Sigmoid volvulus (SV) is a rare cause of intestinal obstruction in childhood, and it is very uncommon below the age of 20 years and above 70 years. In childhood, SV comprises 4% of all intestinal volvulus. Hirschsprung disease (HD) is a developmental disorder of the enteric nervous system, which is characterized by the absence of ganglion cells in the myenteric and Meissner plexus; rarely, SV may complicate HD. We treated one such patient. Being extremely rare, this association is being reported with a review of the relevant literature.

IntroductionSigmoid volvulus (SV) is a rare complication of Hirschsprung's disease (HD) with only 31 cases have been reported in the English literature. Although its diagnosis is challenging, unrecognized SV is a life-threatening condition requiring early recognition to decrease morbidity and mortality.Presentation of caseA 14-year-old male presented to our emergency department with massive abdominal distention. Plain erect abdominal X-ray showed massive colonic distention with multiple fluid levels. Colonoscopy failed to pass beyond 15 cm after entering dilated sigmoid loop. Open surgical exploration was done through a lower midline incision and revealed SV with massive distention of the entire colon. After detorsion, we found a markedly dilated sigmoid colon with an evident discrepancy at the lower sigmoid. Due to massive colonic dilatation, the decision was made for terminal ileostomy. Histopathological examination of biopsy from the narrow segment demonstrated aganglionosis and hypertrophic submucosal neural fibers confirming the diagnosis of HD.DiscussionSV is a rare serious complication of HD. Unrecognized SV is a serious life-threatening condition, so it should be considered in children with acute or recurrent abdominal pain, distension, constipation and vomiting as early recognition and management of volvulus is essential to decrease morbidity.ConclusionThe presented case highlights the possibility of SV as a rare complication of HD should be considered especially in children with a history of chronic constipation and abdominal distension who present with acute colonic distension and failure to decompress despite rectal washes.

69-Year-Old Man With Abdominal Pain and Obstipation

Hirschsprung's disease is a congenital disorder that affects the motility of the colon. It is caused by the absence of ganglion cells in the large intestinal plexuses. Although uncommon, Hirschsprung's disease can be diagnosed until adulthood. In such cases, this is often due to a history of episodes of chronic constipation since childhood, with the majority of these being misdiagnosed and inadequately treated. The present study describes the case of a 20-year-old male patient, with a history of chronic constipation since childhood managed conservatively. Following acute intestinal obstruction, he required an emergency laparotomy with intestinal resection and colostomy. The histopathological analysis revealed aganglionosis in the sigmoid colon, confirming Hirschsprung's disease. Definitive treatment was subsequently decided with Soave-type surgery, with excellent results obtained in subsequent follow-up sessions. In addition, the present study also provides a mini-review of the literature; several similar reports were identified upon searchingw the literature using the PubMed database. Overall, the present study demonstrates that adults with chronic constipation refractory to treatment should be considered susceptible to the diagnosis of this disease.

A 17-year-old Caucasian man with no significant past medical history or hospitalization presented to the ED complaining of abdominal pain, bloating, and diarrhea for five days. The patient said his pain was located in his upper abdomen; it was cramping, constant, and worse when he laid down, with a 7/10 intensity. He reported more than 10 episodes of watery, brown, non-bloody diarrhea daily since the onset of his symptoms. He said he had nausea and had one episode of non-bloody and non-bilious vomiting prior to arrival. He denied fever, chills, headache, sore throat, back pain, genital pain, weight loss, and rash. He recalled similar symptoms that occurred five months earlier that lasted for one week and resolved without intervention. He had no associated trauma, sick contacts, recent travel, or family history of abdominal problems. The patient's vital signs were stable with a temperature of 98°F, a pulse of 80 bpm, a respiratory rate of 16 bpm, a blood pressure of 130/66 mm Hg, and an oxygen saturation of 100 percent on room air. The patient appeared uncomfortable during the physical exam. Heart sounds were normal, and lung fields were clear bilaterally. No bowel sounds were heard. He had marked abdominal distention in the epigastric region, and the abdomen was diffusely tender, firm to palpation, and tympanic to percussion, with guarding. A fluid wave was not appreciated. His mucous membranes were moist, and his skin had good turgor.The remainder of the physical exam was normal. Intravenous fluid was started, labs were drawn, and x-rays of his abdomen with decubitus and erect views were ordered. The patient was given morphine for pain control and ondansetron (Zofran) for nausea. The laboratory results were unremarkable except for a mild elevation in total bilirubin of 1.4 mg/dL. The x-ray showed marked constipation with moderate large bowel predominant air dilation, with the absence of gas in the rectum. (Figure 1.) A CT abdomen and pelvis with oral and IV contrast was ordered. The CT revealed significant distention of the entire colon, with a sigmoid diameter of 10 cm. A transition was seen at the rectosigmoid junction, and no air fluid levels were present. A mesenteric twist was seen at the base of the sigmoid, consistent with a sigmoid volvulus. (Figure 2.)Figure 1: X-ray of the abdomen, supine view.Figure 2: CT of the abdomen and pelvis, coronal view.The patient was admitted to the pediatric in-patient service. IV piperacillin/tazobactam and metronidazole were started. A barium enema was performed, but the volvulus was unable to be reduced. (Figure 3.) A flexible sigmoidoscopy and rectal suction biopsy was performed, which was successful in decompressing the sigmoid colon. The next day, the patient had a large bowel movement, which caused significant improvement in his distention. Rectal biopsies were negative for Hirschsprung's disease. The patient's diet was slowly advanced, and the patient was discharged home after three days on a high-fiber diet to prevent constipation, which was believed to be the precipitating factor. Ultimately, the patient did not require further intervention.Figure 3: Barium enema.Sigmoid volvulus is a rare diagnosis in the pediatric population, with only 63 reported cases in patients under 18 years of age from 1940 to 2000. The median age of diagnosis in a previous review was found to be 7 years old, with a strong male predominance of 3.5:1. (J Am Coll Surg 2000;190[6]:717.) The etiology of pediatric sigmoid volvulus differs from that seen in the adult population. It is most commonly caused by constipation in adults, and has also been associated with a high-fiber diet in developing countries. It is believed to be caused by a redundancy of the sigmoid colon, a long mesentery with a narrow base, or a lack of fixation of the mesentery to a portion of the colon in children. Children with Hirschsprung's disease are also at risk. (J Pediatr Surg 2004;39[9]:1434.) Sigmoid volvulus most commonly presents with the symptoms of abdominal pain, bloating, and vomiting. Less common signs and symptoms include abdominal tenderness, diarrhea, nausea, and fever. (J Am Coll Surg 2000;190[6]:717.) A plain film will most commonly show dilated loops of colon, and may demonstrate the coffee bean sign, referring to the two distended sigmoid compartments with the central double walls of the colon. Plain films can make a diagnosis in 35–60 percent of cases. A CT is the preferred modality for diagnosis in the emergency department, nearing 100 percent accuracy, and can exclude other causes of abdominal pain. (J Emerg Med 2013;44[3]:611.) Managing sigmoid volvulus in children is controversial because of its rarity. Fluid resuscitation and antibiotics should be given because of its association with bowel ischemia, gangrene, and perforation. Early consultation to surgery and gastroenterology is recommended. Nonoperative management should be considered first. Barium enema can be diagnostic and therapeutic, and was successful in reducing the volvulus in 77 percent of patients in a previous study. (J Am Coll Surg 2000;190[6]:717.) A flexible sigmoidoscopy is also an option, with a success rate of 78 percent, but it has a 2.4 percent risk of traumatic perforation. Nonoperative treatment has a high recurrence rate of 35 percent in children and up to 70 percent in adults. Definitive treatment is sigmoidectomy, and should be considered in most patients to prevent recurrence. (World J Surg 2010;34:1923.) Sigmoid volvulus, though rare in children, should be considered in any patient presenting with symptoms of bowel obstruction. Early diagnosis and decompression is vital to prevent complications such as bowel ischemia, gangrene, or perforation.

Backround Sigmoid volvulus is an uncommon cause of bowel obstruction in most western societies. Treatment options include colonoscopy in uncomplicated disease with elective surgery later on. The aim of this study was to assess what treatment sigmoid volvulus patients receive along with long-term outcomes at Landspitali University Hospital. Methods The study was retrospective. Patients diagnosed with sigmoid volvulus at Landspitali University Hospital from 2000-2013 were included. Information regarding age, sex, and duration of hospital stay, treatment, short and long-term outcomes were gathered. Results Forty-nine patients were included in the study, of which 29 men and 20 women. Mean age was 74 (25-93). One patient underwent acute surgery on first arrival due to signs of peritonitis. Others (n=48) were treated conservatively in the first attempt with colonoscopy (n=45), barium enema (n=2) and rectal tube (n=1). Three other patients underwent acute surgery due to failed colonoscopy, 8 patients had planned surgery during the index admission. Thirty-six patients were discharged after conservative treatment with colonoscopy (n=35), barium enema (n=1) or rectal tube (n=1). Two patients came in for elec-tive surgery later on. Twenty-two patients (61%) had recurrence. Median time to recurrence was 101 days (1-803). Disease-free probability in 3, 6 and 24 months was 66%, 55% and 22% respec-tively. Total disease related mortality was 10.2%. Mortality (30 days) after acute surgery was 25% (1/4) and 16,6% (3/18) after planned surgery. Conclusions Sigmoid volvulus has high recurrence rate if not treated operatively. Total mortality due to sigmoid volvulus at Landspitali is low but surgery related mortality high.

Hirschsprung disease, a rare genetic disorder affecting the enteric nervous system, is characterized by the absence of ganglion cells in the myenteric plexus. Typically identified in neonates due to the failure to pass meconium, diagnosis beyond the first year of life is considered delayed. Common clinical manifestations in children with late-onset Hirschsprung disease include abdominal distension, abdominal pain, vomiting, fever, and abnormal bowel sounds. Sigmoid volvulus, though uncommon, can complicate Hirschsprung disease, potentially leading to misdiagnosis and severe complications such as intestinal perforation, hemorrhage, sepsis, and even mortality. Non-surgical interventions such as antibiotic therapy, intestinal decompression, and fluid resuscitation are preferred initial treatments to stabilize the patient. This case involves a 9-year-old boy who has presented with abdominal distension since birth and a lengthy history of irregular bowel habits. The diagnosis of Hirschsprung disease was confirmed at our institution, and the patient underwent a two-stage repair procedure, which was completed without any intraoperative or postoperative complications. The patient experienced an uneventful recovery, was discharged with stable vital signs, and regained normal bowel function. This case highlights the challenges of delayed diagnosis at nine years and underscores the importance of prompt management.

Hirschsprung's disease (HD) is a rare congenital disease that is characterised by the absence of ganglion cells in the myenteric plexus starting in the distal bowel. This results in distal functional obstruction and may lead to complications like enterocolitis. The treatment is surgical and requires the resection of the aganglionic segment, and the pull-through of normal intestine into the anal opening. However, even after successful surgery, patients may continue to have symptoms. Discuss current surgical techniques and management strategies for patients with postoperative symptoms after surgical correction of Hirschsprung's disease. A review of the literature was done through PubMed, with a focus on clinical management and approach. We describe the clinical problems that can occur after surgical correction. These include obstructive symptoms, enterocolitis, or faecal incontinence. A systematic approach for the evaluation of these patients includes the exclusion of anatomic, inflammatory, behavioural or motility related factors. Depending on the severity of the symptoms, the evaluation includes examination under anaesthesia, the performance of contrast studies, endoscopic studies, measurement of anal sphincter function and colonic motility studies. The treatment is focused towards addressing the different pathophysiological mechanisms, and may include medical management, botulinum toxin to the anal sphincter or rarely redo-operation. Patients with Hirschsprung's disease need to have surgical correction, and their postoperative long-term management is complex given a variety of associated problems that can occur after surgery. A systematic evaluation is necessary to provide appropriate therapy.