Colorectal Conditions

Children with Hirschsprung’s disease, typically as newborns, present symptoms such as delayed passage of meconium, swollen belly, and vomiting. Older infants and children occasionally show symptoms such as chronic intractable constipation. 
 
Newborns with anorectal malformations are usually diagnosed soon after birth, although delayed diagnosis occurs in mild cases.  

Hirschsprung's disease is characterized by a developmental disorder in the nervous system of the bowel and occurs in approximately 1 out of 5,000 children. Anorectal malformations are more common and occur when a normal rectal opening is missing, and the related muscles and nerves fail to develop properly.  
 
In most cases, these diseases are detected during the first days of the baby’s life. Hirschsprung’s disease is diagnosed via rectal biopsies to determine the absence of nerve cells, and this requires specialist histopathologists. Anorectal malformations are usually diagnosed via clinical examination but often require imaging techniques to see the anatomy in detail. 

Both of these diseases are treated with surgery during the first months of life. Some newborns need a temporary stoma. It is very common for the bowel emptying function to continue to be affected in children, adolescents, and adults. With the aim of giving our patients the best possible quality of life, our care continues throughout childhood, and the transition to adult care is an important part of long-term care.  
 
We provide highly specialized care on behalf of the Swedish National Board of Health and Welfare. Together with Skåne University Hospital, we are the only hospital in Sweden performing surgery for patients with Hirschsprung’s disease and anorectal malformations.  
 
At Karolinska, we work in multidisciplinary teams, including pediatric surgeons, pediatric urologists, and specialist nurses, to ensure the best possible care. During adolescence, patients are transferred to gastroenterologists, colorectal surgeons, and, in case of urological or gynecological problems, to a urologist and/or a gynecologist. 
 
Together with the renowned Karolinska Institutet, we conduct considerable research on various congenital malformations and pediatric surgical conditions in order to increase information for patients and parents, improve and streamline treatment, and offer optimal individualized care.