Type 1
Crigler-Najjar syndrome
Crigler-Najjar syndrome (CNS) is a very rare genetic condition. Type 1 is the severe form of the condition. It has serious complications that can be life-threatening, even with treatment.
The information on this page is for:
- Parents of children with Crigler-Najjar type 1.
- Family, friends, carers, and healthcare professionals.
On this page:
Important information:
Before reading further it is important to know if your child has type 1 or type 2. If you are not sure, ask your child’s doctor for more information.
You may also want to think carefully about the best time to read this information. It will be here for you whenever you are ready.
What is type 1 Crigler-Najjar syndrome?
This is the severe form of Crigler-Najjar syndrome. In type 1, babies cannot make any of the UDPGT protein. Type 1 Crigler-Najjar syndrome has serious complications. It causes a very fast rise in bilirubin levels in the first week of life. One of the main symptoms is yellowing of the whites of the eyes and skin (jaundice). This gets worse over time and lasts beyond the first three weeks of life.
The rising bilirubin levels put babies at risk of developing a severe complication called kernicterus. This is when high levels of bilirubin build up in the brain and nerve tissues. It is a type of brain damage that is life-threatening, even with treatment.
Kernicterus is also known as bilirubin encephalopathy. It is a serious complication caused by a build up of bilirubin in the brain.
There is no cure for Crigler-Najjar syndrome. Most children with type 1 CNS who do not receive treatment do not survive past childhood.
What are the signs and symptoms?
Early symptoms can include:
- poor feeding
- irritability
- muscles that become floppy, like a rag doll
- extreme tiredness (lethargy)
- a high-pitched cry
- no startle reflex
- being sick (vomiting)
- high temperature (fever)
As kernicterus progresses, further symptoms can include:
- hearing problems
- fits (seizures)
- muscle spasms that cause arching of the back and neck
If significant brain damage occurs before treatment, serious and permanent problems can include:
- hearing loss
- cerebral palsy
- learning disabilities
How is it treated?
Early treatment is essential in Crigler-Najjar syndrome type 1. The aim is to control bilirubin levels and keep them as low as possible.
Treatment will then be ongoing to try and stop high levels of bilirubin building up in the body. The aim is to prevent kernicterus and its complications.
Phototherapy
The main treatment for Crigler-Najjar syndrome type I is phototherapy. During this treatment, a child’s bare skin is exposed to intense light. It is similar to a tanning bed. Special eyewear is used to protect the eyes. This treatment helps the body break down and remove bilirubin. But phototherapy is
a long process and takes around 12 hours per day. This can significantly impact a child’s quality of life. Over time, a child’s skin will also thicken as a result of this treatment, so it becomes less effective.
During phototherapy, the levels of bilirubin in the body can still get too high. This is more likely to happen during periods of illness. If bilirubin levels in the body reach toxic levels, other treatments may be needed.
Intravenous (IV) fluid therapy
This is a way of getting more fluids into the body. A narrow, bendy tube (cannula) is put into a vein using a needle. Fluids and medicines are put into the cannula and go straight into the bloodstream.
Albumin administration
Albumin is a type of protein found in blood plasma (the clear liquid part of the blood). Albumin can be used as a treatment by injecting it into a vein.
Plasmapheresis
This treatment involves separating the liquid part of the blood (plasma) from the blood cells. The plasma is replaced with another liquid (saline or albumin). Or it is treated and returned to the body.
Drug treatments and new therapies
Drug treatments may be used to manage symptoms and complications. Other treatments are also being tested by researchers. This includes hepatocyte transplantation and gene therapies.
Liver transplant
The only definitive treatment for Crigler-Najjar syndrome type I is a liver transplant. The medical team will carefully consider the best time for a transplant to take place. They will need to weigh up the importance of preventing serious complications with the risks of surgery and immunosuppression.
A transplant is an operation to remove a liver that does not work. It is replaced with a whole or part liver from another person (donor). This could be a deceased or live donor. The new liver provides cells and proteins that can break down bilirubin. If the operation is successful, it can significantly improve a child’s quality of life. But it is important to remember that a liver transplant is a major operation.
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This content was last reviewed: December 2024
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We would like to thank everyone who helped with creating and reviewing this page. Information within this leaflet has been produced with input from the three specialist paediatric liver centres in the UK. And with parents and families.
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Everyone’s experience of liver disease will be different. Always talk to your specialist medical team for personal advice.
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