Lucey-Driscol Syndrome

Definition:

An inherited metabolic disorder characterized by severe hyperbilirubinemia (jaundice) that is present in the infant at birth.

Alternative Names:

Transient familial neonatal hyperbilirubinemia

Causes, incidence, and risk factors:

Lucey-Driscol syndrome is thought to be an autosomal recessive inherited disorder. There is an undetermined enzyme defect in the metabolism of bilirubin. Bilirubin accumulates and levels escalate rapidly. These high levels are toxic to the brain and can cause death.

Symptoms:

jaundice (yellow skin) and icterus (yellow eyes) of the newborn
lethargy of the newborn
family history of this disorder
if untreated, seizures and neurologic problems (kernicterus) may develop

Signs and tests:

Blood tests for bilirubin levels are used to confirm the severity of the jaundice.

Treatment:

Phototherapy (with blue light) is used to treat the high level of bilirubin. An exchange transfusion is sometimes necessary to treat this disorder.

Expectations (prognosis):

If treated, the outcome can be good. Untreated, severe complications develop because of the accumulation of bilirubin. As indicated by the name transient, this disorder tends to improve with time after the critical newborn period.

Complications:

Death or severe neurological deficits can occur if the condition is not treated.

Calling your health care provider:

Although this problem would most likely be noted immediately after delivery, call your doctor if you notice your baby's skin turning yellow. There are other causes for jaundice in the newborn that are easily treated.

Prevention:

Phototherapy can significantly prevent the potentially serious complications of this disorder.

Review Date: 12/3/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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