Conditions we treat

What is an anorectal malformation? 

An anorectal malformation is a spectrum of congenital abnormalities involving the anus and rectum. Anorectal malformation may be present with other birth defects, such as abnormalities of the spine, heart, kidneys, limbs and the urologic and reproductive systems. This diagnosis often requires a multidisciplinary team to provide the best care.  

How are anorectal malformations diagnosed? 

Anorectal malformations are sometimes diagnosed prenatally, however more often they are identified in the newborn period on physical exam or if babies have not stooled in the first 48 hours. Doctors will obtain imaging to get a better understanding of anatomy and associated anomalies, which may include abdominal X-ray, abdominal ultrasound, spinal ultrasound, ECHO and contrast study of the lower GI tract.   

What are the symptoms of anorectal malformation? 

Passing stools may be difficult or not possible at all depending on the severity of the anorectal malformation.

What are care options for anorectal malformation?

Depending on the anorectal malformation present, one or more surgeries may be needed. Surgery may require other subspecialists such as gynecologists, urologists and gastroenterologists. 

What does surgery for anorectal malformation look like?

Creation of a colostomy is often performed first. This procedure brings the intestine through the abdominal wall and allows the stool the pass into a bag outside the body. This sets the stage for posterior sagittal anorectoplasty (PSARP), a surgery where the rectum is separated from the urogenital tract and the rectum is placed in the center of the sphincter muscles. 

What does management look like after surgery? 

Following surgery, pediatric surgeons alongside specialists such as urologists, gynecologists and gastroenterologists work together to provide a unique care plan for each patient. After surgery, it is important to ensure the patient has regular, soft stools, sometimes with the aid of medications, and to monitor for possible issues that may be related to surgery.  

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What is Hirschsprung disease?

Hirschsprung disease is the congenital absence of ganglion (nerve) cells that causes poor function (lack of relaxation) of the rectum, colon and sometimes the small intestine as well in severe cases. 

What are the symptoms of Hirschsprung disease?

Newborns who do not pass stool in the first 48 hours of life need to be evaluated for Hirschsprung disease. While Hirschsprung disease is most often identified in the newborn period, when less intestine is affected, toddlers or even older children or adults may have a later diagnosis, with symptoms of chronic constipation, bloating, vomiting and diarrhea.

How is Hirschsprung disease diagnosed?

Anorectal manometry can be used to screen for Hirschsprung disease. This procedure identifies the presence or lack of the rectoanal inhibitory reflex. When the reflex is absent, or anorectal manometry cannot be performed, a rectal biopsy is obtained to identify ganglion cells.

How is Hirschsprung disease treated?

Hirschsprung disease requires a surgery called a pull-through procedure, in which the non-functional segment of the intestine is removed. Other treatments used include rectal irrigations for temporary relief and ostomy.

What does management look like after surgery?

Constipation, or alternatively, hypermotility, are possibilities after surgery. A bowel regimen may be utilized to improve stooling, whether to slow transit or increase frequency and improve consistency of stools.

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What is refractory constipation?

Refractory constipation refers to severe constipation that is difficult to treat. Despite different medications, constipation may not improve.

What is the work-up of refractory constipation?

By the time children are seeing subspecialists for constipation, some additional work-up may be helpful. Thyroid and celiac disease screening, a calcium level and, in the appropriate age group, a lead level may be obtained. In certain instances, motility studies such as anorectal manometry and/or colon manometry are utilized.

How is refractory constipation treated?

Refractory constipation can be challenging to manage and frustrating for families. Sometimes, a change in mindset can be helpful – thinking about constipation as not something that “isn’t normal,” but more as a chronic condition that needs to be treated, the way we think about asthma or high blood pressure. With refractory constipation, employing various strategies to help improve stooling can be helpful in treatment. Changing posture when using the toilet, scheduled toilet sits to work in conjunction with the colon when it's most active, working with pelvic floor physical therapist or GI psychologist and working on dietary modifications. In some cases, regular enemas from below or antegrade (from above) may be necessary.

What is fecal incontinence?

Fecal incontinence (also called fecal soiling and encopresis) is the involuntary leakage of fecal material past 5 years of age in children with normal structure. Some children to be more likely to have stool accidents if they have had surgery for Hirschsprung disease or anorectal malformation, or if they spina bifida. Other children may have functional constipation, and sometimes stool withholding, meaning they try not to stool. Over a long period of time, the rectum and colon can become stretched out if children are not stooling. If children are not stooling, the stool in the colon and rectum become hard. When some medications are used, they create watery stool, which travels around the hard stool and out the bottom. Alternatively, with functional constipation, certain medications can make stools too runny/watery that children may not even recognize the need to stool.

What can be done about fecal incontinence?

Stool accidents in younger children can often be normal. We take stool accidents in older children seriously, as they can sometimes have significant social implications – depression, anxiety, poor school performance, bullying, low self-esteem and more. We work with families to come up with a bowel regimen that works for the family and improves stool accidents and hopefully quality of life.

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