Curr Gastroenterol Rep (2016) 18:22 DOI 10.1007/s11894-016-0496-y

PEDIATRIC GASTROENTEROLOGY (SR ORENSTEIN, SECTION EDITOR)

Rectal Prolapse in Children: Significance and Management Kristen Cares 1 & Mohammad El-Baba 1

# Springer Science+Business Media New York 2016

Abstract Rectal prolapse is a herniation of the rectum through the anus. It is rare in children. When it does occur, it is usually prior to 4 years of age and due to anatomical variants. A few conditions predispose children to rectal prolapse, the most common being constipation. Cystic fibrosis used to be commonly associated with rectal prolapse, but with the advent of cystic fibrosis newborn screening, this association is no longer as frequently seen. Many recent case reports, detailed in this chapter, describe conditions previously unknown to be associated with rectal prolapse. Management is usually supportive; however, rectal prolapse requires surgical management in certain situations. This review details the presentation of rectal prolapse, newly described clinical manifestations, and associated conditions, and up-to-date medical and surgical management. Keywords Rectal prolapse . Constipation . Cystic fibrosis . Solitary rectal ulcer syndrome . Injection sclerotherapy

Introduction Rectal prolapse is a herniation of the rectum through the anal orifice. Partial rectal prolapse involves the mucosa only and presents as radial folds protruding one half to one inch from

the anal verge [1, 2]. On the other hand, complete or fullthickness rectal prolapse, rare in children, involves the protrusion of the entire rectal wall through the anal canal, visualized as circular folds of mucosa, usually protruding more than 2 in. from the anal verge. When the rectum does not fully prolapse through the anal canal, this is called an occult rectal prolapse.

Age of Presentation Rectal prolapse usually occurs prior to 4 years of age due to anatomical variants. At this young age, children tend to have a low position and vertical course of their rectum, great mobility of the sigmoid colon, loose attachment of the rectal mucosa to the muscularis, absence of Houston’s valves, flatter coccyx, and poor levator support [3, 4]. All of these variations place children at higher risk to prolapse their rectum. Children presenting older than 4 years of age usually have a predisposing condition and tend to have recurrent rectal prolapse. These older patients have a higher risk of requiring surgical repair due to difficulties medically managing their prolapse. A recent analysis by Sarmast et al. confirmed this, as the mean age from their analysis of patients with recurrent rectal prolapse who failed medical treatment was 4.97 years [5].

Presenting Symptoms This article is part of the Topical Collection on Pediatric Gastroenterology * Kristen Cares [email protected]

1

Department of Pediatric Gastroenterology, Children’s Hospital of Michigan, 3901 Beaubien Blvd, Detroit, MI 48201, USA

Rectal prolapse in childhood usually affects males and females equally. Clinical manifestation of rectal prolapse usually occurs during defecation. Patients complain of the sensation of a mass or protrusion with defecation, but it is usually painless. Initially, the patient may feel the sensation of incomplete evacuation or tenesmus [6]. In most cases, the prolapse will spontaneously reduce, making it difficult to observe after the

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event in an office setting. During an examination, having the patient squat or perform the Valsalva maneuver may reproduce the prolapse. The rectal prolapse can appear as a beefy red mass protruding from the anus. If reduction of the prolapse is not immediate, the mucosa can become congested and edematous, further making reduction more difficult. Excessive mucoid discharge with rectal bleeding and possible ulceration can develop in these situations [1].

Conditions Associated With Rectal Prolapse There are many conditions reported to be associated with rectal prolapse (see Table 1). In developing countries, parasitic disease and diarrheal illnesses with malnutrition are the most common conditions associated with rectal prolapse [2]. In developed countries, constipation is the most common diagnosis associated with rectal prolapse. Prolonged sitting in addition to straining during defecation leads to high intraabdominal pressure, which can precipitate rectal prolapse [2]. Other conditions reported to be associated with rectal prolapse include cystic fibrosis, polyps, infectious gastroenteritis, ulcerative colitis, whooping cough, Hirschsprung’s disease, Ehlers-Danlos syndrome, myelomeningocele, rectal polyps, and anorectal anomalies [2, 7]. These conditions place patients at risk due to lack of rectal support, increased abdominal pressure, maldevelopment or anatomical anomalies of the pelvis, neuropathies, or trauma [2]. In conditions with chronic diarrhea and malnutrition, the

Table 1 Conditions associated with rectal prolapse

loss of ischiorectal fat leads to lack of rectal support. Lack of rectal support is also seen in patients with anorectal anomalies, even after surgical correction due to either poor development of rectal muscles, denervation, or anatomical abnormalities [2]. In children with myelomeningocele and other neurologic disorders, paralysis of the levator ani muscle and increased intra-abdominal pressure often lead to complete rectal prolapse [1, 2]. Lead points induce intussusception, which can present as rectal prolapse, as seen with rectal polyps or with pseudopolyps in ulcerative colitis [1]. Increased intraabdominal pressure increases the risk for rectal prolapse and is seen in patients with cystic fibrosis, whooping cough, diarrhea, and protracted vomiting [1, 2]. With the exception of surgical journals, little has been published since the late 1980s analyzing the risk factors or medical conditions associated with rectal prolapse [7]. Since that time, numerous case studies have described previously unreported conditions presenting with rectal prolapse. Two case reports each describe a child presenting with a bladder stone in addition to rectal prolapse, due to the straining to pass the stone [8, 9]. Other rare cases include a child presenting with rectal prolapse found to have non-Hodgkin’s lymphoma of the rectum; a child diagnosed with malakoplakia of the colon who presented with recurrent rectal prolapse; a case of PeutzJeghers syndrome presenting with a large polyp in the descending colon that prolapsed through the rectum; a child who suffered from a superinfection with screw-worm (Chrysoma bezziana) maggots resulting in rectal prolapse; a young child presenting with multiple white punctate lesions on the prolapsed rectum found to have CMV enterocolitis and

Increased abdominal pressure

• Chronic constipation with straining

Chronic diarrheal diseases

• Intractable cough (as in whooping cough, cystic fibrosis) • Parasitic infection

Infectious gastroenteritis

• Inflammatory bowel disease • Bacterial: Clostridium difficile, Salmonella, Shigella • Viral: CMV • Parasitic

Milk protein allergy Chronic malnutrition Anorectal anomalies and previous anorectal surgery

• Cystic fibrosis • Celiac disease • Hirschsprung’s disease

Neurologic Behavioral or psychiatric conditions

• Imperforate anus • Myelomeningocele • Defecation dysfunction

Lead point inducing intussusception

• Constipation secondary to medications • Rectal polyps

Other

• Pseudopolyps in ulcerative colitis • Trauma • Ehler-Danlos syndrome

Curr Gastroenterol Rep (2016) 18:22

HIV; Shigella diarrhea presenting with rectal prolapse in the neonatal period; an infant with cough and chronic diarrhea who ruptured the distal colon, leading to rectal prolapse progressing to disembowelment of small intestine through the anus; and a patient presenting with recurrent rectal prolapse, eventually diagnosed with celiac disease, whose prolapsing resolved after institution of a gluten-restricted diet [10–18]. These case reports describe rare entities; however, there are a few conditions that require special mention, as they are now commonly reported to occur with rectal prolapse. Cow’s milk protein intolerance has now been reported in a handful of studies to be associated with rectal prolapse. Shah et al. in 2005 reviewed pediatric cases of rectal prolapse that failed medical treatment [19]. Three out of 17 patients, or 17 %, were eventually diagnosed to have cow’s milk protein allergy. All three patients had resolution of rectal prolapse once dairy was removed from their diet. Prior to dairy restriction, these patients had immediate recurrence of rectal prolapse after injection sclerotherapy. One patient underwent reinstitution of dairy, and the rectal prolapse recurred. Another study reported a patient with recurrent rectal prolapse who underwent colonoscopy and was found to have lymphoid hyperplasia [20]. Once cow’s milk was removed from diet, the rectal prolapse resolved; however, when re-exposed, the patient suffered from complete rectal prolapse. One can theorize that these patients are prone to rectal prolapse due to the amount of straining and underlying mucosal inflammation associated with allergic colitis, as occurs with other forms of diarrhea, and perhaps to the function of the lymphoid nodules as tiny lead points. A few cases have also described Clostridium difficile enterocolitis presenting as rectal prolapse in children [21–23]. In all cases, after either discontinuing the antibiotic that led to the infection or administering an antibiotic to treat the infection, the rectal prolapse resolved. One case, confirmed by stool studies and histology following colonoscopy, occurred in a child less than 1 year of age [24]. Many pathogens have been known to cause rectal prolapse, but until recently, C. difficile was not included in this list. How this pathogen leads to rectal prolapse is unknown, but is thought to be similar to other infectious enterocolitis: increased intra-abdominal pressure and inflammation of the bowel wall leading to poor rectal motility. Fourteen cases report rectal prolapse of children sitting on an uncovered swimming pool drain. The mechanism of prolapse is the creation of a circumferential seal around the anus that leads to a powerful vortex by the suction of the drain [25, 26]. Awareness of the severity of injury to these patients resulted in the implementation of new federal and state laws adding safety features to pool drains [27]. Nonetheless, public awareness of this risk is important, especially during travel to other countries with unknown pool-drain safety laws.

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Solitary Rectal Ulcer Syndrome Solitary rectal ulcer syndrome (SRUS) is a rare benign condition in children; when seen, it is commonly associated with rectal prolapse [1]. Patients can present with rectal bleeding, passage of mucus, and/or rectal pain during defecation. The amount of rectal bleeding can vary from a scant amount to severe hemorrhage requiring transfusion [24]. Some children complain of tenesmus, and parents sometimes presume that their child is suffering from diarrhea due to the prolonged period of time on the toilet. These symptoms in addition to rectal bleeding can sometimes lead to confusion with inflammatory bowel disease. In some cases, SRUS is an incidental finding on proctosigmoidoscopy, as some patients are asymptomatic from the ulcer. On gross endoscopy, a single (or sometimes multiple), shallow ulcer is found on the anterior wall of the rectum. The presentation of the ulcer can vary from mild erythema, to a large ulcer with white, gray, or yellowish exudate, to a polypoid lesion [28, 29]. It is usually sharply demarcated, with the nearby mucosa having a nodular, lumpy, or granular appearance and the rest of mucosa looking normal [24, 30]. Due to the variability in presentation, it is highly recommended to biopsy the involved area [24]. Classic histology reveals fibroblast infiltration that obliterates the lamina propria, hypertrophied muscularis mucosa, distorted crypts, and collagen deposition in the lamina propria [1, 24]. The epithelium reveals reactive hyperplasia, with goblet cell depletion and cystic dilatation of tubules. The etiology for the ulcer formation is unknown, but is thought to be related to uncoordinated, simultaneous contraction of pelvic floor and puborectalis muscles during straining [30]. The straining can compress the anterior rectal mucosa into the upper anal canal, leading to mucosal trauma [1]. During rectal prolapse, the anterior rectal mucosa is prolapsed through the puborectalis sling and can become strangulated, leading to superficial necrosis and ulceration. Manual reduction during rectal prolapse can also lead to trauma and ulceration of mucosa [23]. Treatment for SRUS is not well defined and varies depending on the presenting symptoms. Conservative treatment includes laxatives, high fiber diet, and methods to avoid straining [24]. Behavioral modification therapy may be helpful in patients with persistent straining and uncoordinated defecation habits [31]. Topical application of sucralfate, sulfasalazine, or corticosteroid enemas shows some efficacy [24]. In patients with severe symptoms, recurrent rectal prolapse, or failure of conservative measures, surgical methods, such as excision or correction of rectal prolapse, may be indicated [26].

Cystic Fibrosis Cystic fibrosis used to be considered a common condition associated with rectal prolapse. Rectal prolapse occurs in

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patients with cystic fibrosis because of the lack of supporting structures around the levator ani and ischiorectal fossa due to malnutrition, in addition to voluminous stools [2, 4]. In 1988, Zempsky et al. analyzed rectal prolapse and associated conditions. They found cystic fibrosis to be the third most common condition associated with rectal prolapse, occurring in 6 out of 54 patients with prolapse. Similarly, Stern et al. in 1982 documented the occurrence of rectal prolapse in 112 of 605 cystic fibrosis patients (18.5 %). Forty-eight of those patients presented with rectal prolapse prior to their diagnosis of cystic fibrosis. As many other reports had suggested, they highly recommended a sweat test be performed on any child presenting with rectal prolapse, not only those with recurrent prolapse but even after only a single episode [32, 33]. Since this time, the development of newborn screening for cystic fibrosis by radioimmunoassay for immunoreactive trypsinogen has been implemented. Due to newborn screening, cystic fibrosis is now diagnosed earlier and treated before clinical manifestations, like malabsorption, develop. A study by El-Chammas et al. recently addressed this issue and analyzed the prevalence of cystic fibrosis in patients with rectal prolapse following the implementation of cystic fibrosis newborn screening [34••]. Their review found that only 3.6 % of patients with rectal prolapse had cystic fibrosis. Other recent studies report similar results [3, 4, 35]. Therefore, the recommendation of a sweat chloride test in all patients presenting with rectal prolapse is in question. Most authors now recommend sweat chloride testing in patients with recurrent rectal prolapse or without an identifiable cause [4].

Behavioral Abnormalities Recent studies report behavioral and/or psychiatric conditions to be associated with difficult-to-treat recurrent rectal prolapse. A study published by Sun et al. found that 41 % of patients who required rectal prolapse surgery had chronic psychiatric disease [36•]. In addition, these patients had a higher risk of recurrent rectal prolapse following surgery [3]. In a similar study, 50 % of young adults with complete rectal prolapse had severe psychiatric disease [37]. These patients required medications for their underlying psychiatric disease, and the authors theorize that the refractory rectal prolapse could be due to psychiatric medications, which are known to exacerbate constipation [38]. Shah et al. also found similar results in their analysis. They found that patients with behavioral problems and developmental delay failed not only medical management but also non-invasive surgical techniques, such as injection sclerotherapy [17]. They commented that children with behavioral problems or severe developmental delay have a high risk of functional defecation disorder; in that stooling is attempted against a close sphincter, which promotes straining and a risk for

prolapse [18]. In patients with developmental delay and behavioral disorder, this cycle may become obsessive. Many reviews of recurrent rectal prolapse published in surgical journals now identify treatment of recurrent rectal prolapse in these patients to be challenging [39]. Suggestions have been made that these children may benefit from early surgical correction, as the duration of symptoms is stressful to the patients and the family. Most recommend not only aggressive therapy but also a combination of treatments, including behavioral and psychological care and physical therapy [40].

Management Most cases of rectal prolapse spontaneously resolve without need for intervention. However, if persistent prolapse is present during examination, manual reduction should be attempted as soon as possible before edema develops. Manual reduction can be attempted by grasping the mucosa with lubricated fingers and pushing the prolapse back in. Edematous mucosa may require firm steady digital pressure for a few minutes to reduce the swelling [41]. If prolapse immediately returns following digital reduction, strapping of the buttocks with adhesive tape may be necessary for a few hours. Following reduction, management should include treating the underlying cause to prevent recurrent rectal prolapse. Since most cases are due to constipation, usually, a high fiber diet, laxative therapy, and methods to prevent straining are common [3]. Prolonged sitting on the toilet should also be avoided. A sitting position with the knees bent will help straighten the anorectal angle and promote evacuation of stool. Some children may need a stepping stool in order to obtain an adequate bent-knee angle. Some authors recommend aggressive and early treatment in combating constipation, as they found the patients who had relapsing prolapse with constipation were less responsive to medical management [3].

Surgical Management Children who fail medical treatment may require surgical correction. When to surgically correct is still undefined. Factors considered usually include the patient’s age, duration and frequency of prolapse, and presenting symptoms. Antao et al. published guidelines regarding when to surgically manage patients with rectal prolapse. In their report, the authors suggest withholding surgery in children younger than 4 years of age, as early surgical correction has been associated with relapsing prolapses with difficult reduction [3]. However, this may not be possible in patients with complicated rectal prolapse. If surgical correction is determined to be needed in a patient, least invasive approaches are recommended,

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especially in children [3]. Injection sclerotherapy is reported to be the most commonly used first-line surgical procedure performed in patients who have recurrent rectal prolapse [42]. The success rate with injection sclerotherapy is reported to be as high as 90–100 % in children. This procedure may be combined with insertion of foreign material to provide additional support encircling the anus, such as a non-absorbable suture, also known as the Thiersch procedure [2, 3]. The recurrence rate reported for the Thiersch procedure varies, from as high as 10 % to as low as 1.4 % [2, 3, 5, 43]. Other less invasive techniques include linear cauterization and insertion of material to pack the presacral space [31, 44]. Patients with either complete rectal prolapse or recurrent rectal prolapse following non-invasive procedures may require a more invasive approach. A vast array of invasive surgical procedures can be performed for recurrent rectal prolapse. In children, little is known about which technique is superior, due to the rarity of the disorder and the limited need for such procedures. Currently, centers are offering all types of procedures for recurrent rectal prolapse in children and optimum treatment is still debated. One of these procedures includes rectopexy, or mobilization and fixation of rectum to the presacral fascia [45]. Fixation can be completed either by a suture or by insertion of a material between the rectum and sacrum, which leads to stronger fibrotic adherence [46]. Some concern that the foreign material can either erode or become ineffective makes suture more favored recently by some surgeons [37]. The Ripstein procedure, or anterior sling rectopexy, produces a curve of the rectum by creating a sling that wraps around the rectum with non-absorbable material sutured to the presacral fascia [37]. This minimizes direct vertical intra-abdominal pressure being exerted on the anus. Resection of redundant mucosa or of the full-thickness rectosigmoid is another option. This can be performed laparoscopically or transanally. Studies show that transanal or perineal approaches have higher recurrence rates, but may be better solutions for patients who are not candidates for a more invasive intra-abdominal procedure [47]. The Delorme procedure uses a perineal approach and resects redundant mucosa with plication. The Altemeier procedure involves perineal rectosigmoidectomy with anal anastomosis [47]. The Frykman-Goldberg procedure is performed via laparoscopic approach and involves not only rectosigmoid resection but also rectopexy to fixate the rectum and further prevent prolapse [45]. There are many other types of procedures for recurrent rectal prolapse; most of them are a modified version of those listed above. Again, since rectal prolapse usually occurs prior to 4 years of age and usually resolves spontaneously, it is rare to require invasive surgical correction for this condition. Unfortunately, by the time patients require surgery, they are at high risk of failing surgical treatment, as these types of patients usually either have a severe case or have a predisposing condition

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that is difficult to treat adequately to prevent recurrent episodes of rectal prolapse.

Conclusions Rectal prolapse is a rare condition in children. It usually presents younger than 4 years of age and resolves spontaneously. It can create a large amount of anxiety in parents. In most cases, the prolapse will spontaneously reduce, but at times, it may need manual reduction. Management involves not only reassurance of the parents but also treatment of the underlying condition; the latter usually consists of laxative therapy to prevent straining with constipation. A handful of other conditions associated with rectal prolapse discussed above should be considered, especially in cases of recurrent rectal prolapse without constipation. Surgical treatment for rectal prolapse is rarely needed in children, as most cases eventually resolve with treatment or with age. If patients continue to present with recurrent prolapse refractory to medical treatment, consulting a pediatric surgeon should be considered. Compliance with Ethical Standards Conflict of Interest The authors declare that they have no conflicts of interest. Human and Animal Rights and Informed Consent This article does not contain any studies with human or animal subjects performed by any of the authors.

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