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    Anorectal Malformation

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    Nazurah Azmira
    Anorectal malformation is a birth defect affecting 1 in 4000-5000 births where the anus and rectum are abnormally developed. The cause is unclear but likely multifactorial, with some familial patterns. It can occur alone or with other syndromes. Symptoms include lack of stool, stool from vagina, or urine from anus. Diagnosis involves imaging tests. Treatment depends on severity but often requires multiple surgeries like colostomy and connecting rectum to anus to correct the defect.

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    Anorectal Malformation

    Uploaded by

    Nazurah Azmira
    157 views11 pages
    Anorectal malformation is a birth defect affecting 1 in 4000-5000 births where the anus and rectum are abnormally developed. The cause is unclear but likely multifactorial, with some familial patterns. It can occur alone or with other syndromes. Symptoms include lack of stool, stool from vagina, or urine from anus. Diagnosis involves imaging tests. Treatment depends on severity but often requires multiple surgeries like colostomy and connecting rectum to anus to correct the defect.

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    Anorectal malformation is a birth defect affecting 1 in 4000-5000 births where the anus and rectum are abnormally developed. The cause is unclear but likely multifactorial, with some familial patterns. It can occur alone or with other syndromes. Symptoms include lack of stool, stool from vagina, or urine from anus. Diagnosis involves imaging tests. Treatment depends on severity but often requires multiple surgeries like colostomy and connecting rectum to anus to correct the defect.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    157 views11 pages

    Anorectal Malformation

    Uploaded by

    Nazurah Azmira
    Anorectal malformation is a birth defect affecting 1 in 4000-5000 births where the anus and rectum are abnormally developed. The cause is unclear but likely multifactorial, with some familial patterns. It can occur alone or with other syndromes. Symptoms include lack of stool, stool from vagina, or urine from anus. Diagnosis involves imaging tests. Treatment depends on severity but often requires multiple surgeries like colostomy and connecting rectum to anus to correct the defect.

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    Anorectal Malformation

    Epidemiology
    • Anorectal malformation occurs at 1 from 4000-5000 new births.
    • The frequency in boys is higher than for girls.
    Etiology
    • The etiology of such malformations remains unclear and is likely
    multifactorial.
    • There appears to be a low rate of association in families, but some
    appear to have an autosomal dominant inheritance pattern with a
    high incidence, as much as 1 in 100
    • Some studies demonstrated several mutations of genes. Few
    syndromes with autosomal dominant mode of inheritance such as
    Townes-Broks syndrome, Currarino's syndrome, and Pallister-Hall
    syndrome are associated with ARM.
    Risks Factors
    Anorectal malformation may be seen with some genetic syndromes or
    congenital problems that are present at birth which includes:
    • VACTERL association. This disorder includes problems with the spine,
    anus, heart, trachea, esophagus, kidneys, and arms and legs.
    • Digestive system problems
    • Urinary tract problems
    • Spinal problems
    • Down syndrome
    • Townes-Brocks syndrome. This syndrome includes problems with the
    anus, kidneys, ears, and arms and legs.
    Symptoms
    Anorectal malformations cause problems with how a child has a bowel
    movement. Most anorectal malformations are found before a newborn
    leaves the hospital. If the problem is not found in the hospital,
    symptoms may include:
    • Lack of stool
    • Stool coming from the vagina
    • Urine coming from the anus
    • Trouble having a bowel movement, or constipation
    Complications
    • Narrow anal passage.
    Children may have trouble passing a bowel movement. This causes
    constipation and possibly mild pain.
    • Membrane over the anal opening.
    • Rectum is not connected to the anus, but there is a fistula. Stool will
    leave body through the fistula instead of the anus. This can cause
    infections.
    • Rectum is not connected to the anus, and there is no fistula. There is
    no way for stool to leave the intestine. If this is not treated, it can be
    fatal.
    Diagnosis
    • Abdominal X-rays. This test makes images of internal tissues, bones, and
    organs.
    • Abdominal ultrasound. This test uses high-frequency sound waves and a
    computer to create images of blood vessels, tissues, and organs.
    Ultrasounds are used to see internal organs and to check blood flow
    through different vessels.
    • CT scan. This test uses X-rays and a computer to make images of any part of
    the body. This includes the bones, muscles, fat, and organs. A CT scan is
    more detailed than a general X-ray. Older children may have a general X-ray.
    • MRI. This test uses a magnetic field and radio waves to make detailed
    images of organs and structures in the body. Older children may have this
    test.
    • Lower GI or gastrointestinal series, also called a barium enema. This
    test checks the rectum, the large intestine, and the lower part of the
    small intestine. A metallic, chalky fluid called barium is put into the
    rectum as an enema. It coats the inside of organs so that they will
    show up on an X-ray. An X-ray of the belly or abdomen shows
    narrowed areas called strictures, blockages, and other problems.
    • Upper GI or gastrointestinal series, also called barium swallow. This
    test checks the organs of the upper part of the digestive system. That
    includes the food pipe or esophagus, the stomach, and the first
    section of the small intestine, called the duodenum. A metallic, chalky
    fluid called barium is swallowed. It coats the inside of organs so that
    they will show up on an X-ray. Then X-rays are taken to check the
    digestive organs.
    Treatment
    • Treatment will depend on child’s symptoms, age, and general health. It will also
    depend on how severe the condition is.
    • Most babies with anorectal malformation will need to have surgery to correct
    the problem. The type and number of surgeries your child needs will vary. It
    depends on the type of problem your child has. These problems include the
    following:
    oNarrow anal passage
    Surgery may not be needed. A procedure known as anal dilation may be done
    from time to time. This helps to stretch the anal muscles so stool can pass
    through.
    oAnal membrane
    Surgery is done to remove the membrane. Anal dilations may need to be done to
    help with any narrowing of the anal passage.
    oLack of rectal or anal connection, with or without a fistula

    A series of surgeries is done to repair the problem. These surgeries


    include:
    • Colostomy. With a colostomy, the large intestine is divided into 2
    sections. The ends of the intestine are brought through openings in
    the stomach. The upper section lets stool pass through the opening
    (stoma) and into a collection bag. The lower section lets mucus made
    by the intestine pass into a collection bag .
    • Attaching the rectum to the anus. This surgery is often done in the
    first few months of life. The colostomies stay in place for a few
    months after this surgery so the area can heal without being infected
    by stool. The rectum and anus are now joined. But stool will leave the
    body through the colostomies until they are closed with surgery.
    • Closing the colostomies. This surgery is done about 2 to 3 months
    later. Several days after surgery, your child will start passing stools
    through the rectum. At first, stools will pass often and they will be
    loose. A few weeks after surgery, the stools happen less often and are
    more solid. This often causes constipation.

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