Congenital Liver Defects

What are congenital liver defects?

Defects of the liver at birth usually affect the bile ducts. Though rare, some congenital liver defects include:

• Biliary atresia. A condition in which the bile ducts are blocked or have developed abnormally to obstruct flow of bile in infants.

• Choledochal cyst. A malformation of the hepatic duct that can obstruct flow of bile in infants.

What are the indicators that a congenital liver defect may be present?

Congenital liver defects that affect the flow of bile share some common symptoms. The following are the most common symptoms of congenital liver defect. However, each individual may experience symptoms differently. Symptoms may include:

• Jaundice (yellowing of the skin and eyes)

• Dark urine

• Pale, white, or gray-colored stools

• Abdominal (belly) mass 

• Abdominal pain 

• Failure to thrive or not gaining weight 

The symptoms of congenital liver defects may resemble other medical conditions or problems. Always consult your child's doctor for a diagnosis.

How are congenital liver defects diagnosed?

Congenital liver defects that affect the flow of bile are usually diagnosed at birth or shortly afterward. In addition to a complete medical history and physical examination, diagnostic procedures for a congenital liver defect may include:

• Laboratory tests (blood, urine and stool).

• Liver enzymes tests (alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase (AP), and gamma-glutamyl transpeptidase (GGT). A series of special blood tests that can determine whether the liver is inflamed.

• Liver function tests. A series of special blood tests that can determine if the liver is working the way it should.

• Liver biopsy. A procedure in which tissue samples from the liver are removed (with a needle or during surgery) for examination under a microscope.

• Computed tomography scan (CT or CAT scan). A diagnostic imaging procedure using a combination of X-rays and computer technology to produce horizontal, or axial, images (often called slices) of the body. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat, and organs. CT scans are more detailed than general X-rays.

• Ultrasound. A diagnostic imaging technique, which uses high-frequency sound waves and a computer to create images of blood vessels, tissues, and organs. Ultrasounds are used to view internal organs of the abdomen such as the liver, spleen, and kidneys and to assess blood flow through various vessels.

• Magnetic resonance imaging (MRI). A diagnostic imaging test that uses a combination of large magnets, radiofrequencies and a computer to produce detailed imaged of organs and structures in the body. MRCP (magnetic resonance cholangiopancreatography) is a special type of MRI that obtains pictures of the bile duct and internal organs.

What is the treatment for congenital liver defects?

Specific treatment for congenital liver defects will be determined by your child's doctor based on:

• Your child's age, overall health, and medical history

• Extent of the disease

• Your child's tolerance for specific medications, procedures, or therapies

• Expectations for the course of the disease

• Your opinion or preference

Treatment may include surgery to reconstruct or bypass the bile ducts. Sometimes, a liver transplant may be necessary.