Conditions & Treatments

Congenital Liver Defects

Congenital liver defects are rare liver diseases present at birth such as biliary atresia, when the bile ducts are absent or have developed abnormally, and choledochal cyst, a malformation of the hepatic duct that can obstruct flow of bile in infants.

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.

Treatment Programs


Massachusetts General Hospital understands that a variety of factors influence patients' health care decisions. That's just one reason why we're dedicated to ensuring patients understand their diagnosis and treatment options. Because a single option might not serve all patients, we offer a wide range of coordinated treatments and related services across the hospital. Patients should consult with their primary care doctor or other qualified health care provider for medical advice and diagnosis information.

Select a treatment program for more information:



Digestive Healthcare Center

  • Liver Center
    Massachusetts General Hospital Liver Center specialists are authorities in the diagnosis and management of all forms of acute and chronic liver disease.
Imaging

  • Adult Medicine Imaging
    The Adult Medicine Imaging Program at Massachusetts General Hospital Imaging offers a wide range of diagnostic exams and minimally invasive, image-guided treatments, all provided using leading-edge equipment and interpreted by specialty-trained radiologists.
  • Pediatric Imaging
    The Pediatric Imaging Program at Massachusetts General Hospital Imaging specializes in ensuring the safety and comfort of child patients while providing the latest technology and the expertise of specialized pediatric radiologists.
MassGeneral Hospital for Children

  • Pediatric Surgery
    The Pediatric Surgery service at MassGeneral Hospital for Children is an international referral center for the complete spectrum of general and thoracic pediatric and neonatal surgical services.
  • Pediatric Hepatobiliary and Pancreatic Program
    The Pediatric Hepatobiliary and Pancreatic Program at MassGeneral Hospital for Children diagnoses and treats infants, children and adolescents with diverse hepatic, biliary and pancreatic disorders.
  • Pediatric Transplant Surgery
    The Pediatric Transplant Program at MassGeneral Hospital for Children is a major referral center for organ transplants for children.
Transplant Center

  • Liver Transplant Program
    The Massachusetts General Hospital Transplant Center has performed more adult and pediatric liver transplants than any other center in New England, and has maintained some of the best graft and patient survivals in the country.
Gastroenterology

  • Hepatology Program
    The Hepatology Program at the Gastroenterology Division of Massachusetts General Hospital provides expert consultation and ongoing care for patients with acute and chronic liver conditions.

The following related clinical trials and research studies are currently seeking participants at Massachusetts General Hospital. Search for clinical trials and studies in another area of interest.

Innovative care at the Digestive Healthcare Center

Learn more about the latest treatment options for this condition at the Digestive Healthcare Center