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Alternative names
Transient familial neonatal hyperbilirubinemiaDefinition Return to top
Lucey-Driscol Syndrome is an inherited metabolic disorder characterized by severe hyperbilirubinemia (jaundice) that is present in the infant at birth.Causes, incidence, and risk factors Return to top
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 Return to top
Signs and tests Return to top
Blood tests for bilirubin levels are used to confirm the severity of the jaundice.Treatment Return to top
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) Return to top
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 Return to top
Death or severe neurological deficits can occur if the condition is not treated.Calling your health care provider Return to top
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 Return to top
Phototherapy can significantly prevent the potentially serious complications of this disorder. Update Date: 10/9/2003 Updated by: Celeste Krauss, M.D., Board Certified Clinical Genetics, Clinical Cytogenetics and Pediatrics. Founding Fellow, American College of Medical Genetics. Review provided by VeriMed Healthcare Network.
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Page last updated: 28 October 2004 |