CHILD SURGEON
ANORECTAL MALFORMATION (ARM)
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Video in English
Anorectal malformation (ARM) refers to a group of congenital birth defects that affect the structure of the anus and rectum. It occurs during early fetal development when the lower gastrointestinal tract does not form properly. This condition is also known as imperforate anus. he exact cause of ARM is not well understood, but it is believed to result from a combination of genetic and environmental factors.
Clinical features and presentation
The spectrum of anorectal malformation refers to the wide range of variations and severity of the condition. ARM can vary from mild forms where the anus is only partially affected, to more complex forms where the rectum is not properly connected to the anus and may have additional abnormalities. Nearly all patients with this anomaly have a visibly abnormal anal opening.
Associated abnormalities
Anorectal malformation (ARM) can sometimes be associated with other abnormalities or conditions. The specific associated abnormalities can vary among individuals, and not all individuals with ARM will have additional abnormalities. Some common associated abnormalities that may be seen in conjunction with ARM are:
Genitourinary Abnormalities: There is an increased likelihood of finding abnormalities in the genitourinary system. These may include kidney abnormalities, such as renal agenesis (absence of one or both kidneys), hydronephrosis (swelling of the kidneys), or urethral abnormalities.
Spinal Abnormalities: Some individuals with ARM may have spinal abnormalities, such as spinal cord tethering, spina bifida (a defect in the spinal column), or abnormalities in the vertebrae. Such patients may have weakness in the nerves controlling the lower limbs, passage of urine and stools. These patient may have soiling or incontinence.
Cardiac Anomalies: Certain heart defects or abnormalities may occur more frequently in individuals with ARM. Examples include ventricular septal defect (a hole in the wall between the heart's lower chambers), atrial septal defect (a hole in the wall between the heart's upper chambers), or Tetralogy of Fallot (a combination of heart defects).
Skeletal Anomalies: Some individuals with ARM may have skeletal abnormalities, including abnormalities of the spine, hips, or limbs.
It's important to note that not every individual with ARM will have these associated abnormalities. The presence and severity of associated abnormalities can vary greatly among individuals. Additionally, the specific combination of associated abnormalities can differ from person to person. When a diagnosis of ARM is made, further investigations and evaluations may be conducted to identify any associated abnormalities. This helps in developing an appropriate treatment plan and providing comprehensive care for the individual.
Surgery related
Surgery is the primary treatment for anorectal malformation (ARM), hence involvement of pediatric surgeon in the operative team is of paramount importance. The specific surgical procedure needed depends on the type and severity of the malformation. One of the most important factors to decide management is how far away from the skin the defect is present. If it is close to the skin we call it low defect and if away from the skin, we call it high defect.
Anoplasty: Anoplasty is a surgical procedure performed to create an anal opening when the defect is low. The surgeon makes an incision to create an opening and position it in the correct location. The surrounding muscles and tissues are then reconstructed to support proper bowel function.
Colostomy: In more complex cases of ARM, where the rectum is not properly connected to the anus or the malformation involves a significant gap (high anomaly), a temporary colostomy may be performed. A colostomy is a surgical procedure that creates an opening in the abdominal wall through which a part of the colon (large intestine) is brought out. This allows time for the baby to grow and tide over the initial crisis. This also allows for further evaluation and preparation for the definitive surgery.
Posterior Sagittal Anorectoplasty (PSARP): PSARP is the most common surgical procedure for repairing anorectal malformation. It is usually performed after the initial colostomy, typically when the baby is a few months old. During the procedure, an incision is made in the area between the buttocks (the posterior sagittal region). The surgeon then reconstructs the rectum, connects it to the newly created anus, and repairs any associated abnormalities.
Staged Repair: In some complex cases, multiple surgeries may be needed to repair the malformation fully. This staged approach allows the surgeon to address different aspects of the malformation gradually, ensuring the best possible outcomes.
It's important to understand that the specific surgical approach will depend on the individual's unique circumstances and the expertise of the surgical team. The surgical plan will be discussed and decided upon Pediatric surgeons.
Follow up is extremely important to ensure proper healing and patency of the new anus.
Follow up
For individuals with anorectal malformation (ARM), the long-term outcomes can vary depending on the severity of the malformation, associated abnormalities, and the effectiveness of treatment and follow-up care.
Bowel Function and continence : With appropriate surgical intervention and ongoing medical care, many individuals with ARM can achieve good bowel control. However, the level of bowel control can vary among individuals and some individuals may require additional interventions or support, such as dietary modifications or medications and even regular washes, to manage bowel movements effectively.
Urinary problems: children with associated defects in spinal cord (i.e weak nerves) and patients with most severe forms of ARM may suffer for urinary incontinence (wetting of clothes).
Quality of Life: With appropriate management and support, individuals with ARM can lead fulfilling lives and participate in various activities. Ongoing medical care, regular follow-up visits, and access to support networks can contribute to a good quality of life for individuals with ARM.
It's important to note that each individual's experience and outcomes can be different, and it's crucial to consult with healthcare professionals who specialize in the management of ARM for personalized guidance and support. With appropriate medical care, multidisciplinary support, and ongoing follow-up, many individuals with ARM can lead healthy and satisfying lives.