Pediatric Crigler-Najjar syndrome

What is pediatric Crigler-Najjar syndrome?

Crigler-Najjar syndrome is a very rare disorder. It occurs when a child has high levels of bilirubin (a toxic byproduct of the normal breakdown of red blood cells) in the blood. Over time, excess bilirubin in the blood can lead to excess bilirubin in the brain and nerve tissues, which causes a form of brain damage known as kernicterus.

If untreated, kernicterus can cause a variety of neurological problems, such as involuntary muscle spasms of the body, hearing problems or intellectual disability.

Crigler-Najjar syndrome was first described by Dr. John Crigler and Dr. Victor Najjar in 1952 when the observed the condition in six infants of three related couples.

What are the signs and symptoms of pediatric Crigler-Najjar syndrome?

• Extreme lethargy (tiredness)

• Jaundice

• Low muscle tone (hypotonia)

• Periodic arching of the back

What are the causes of pediatric Crigler-Najjar syndrome?

A gene mutation that is hereditary (passed down in families) causes Crigler-Najjar syndrome.