Lucey-Driscoll Syndrome

Alternative names
Transient familial neonatal hyperbilirubinemia

Definition
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
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

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.

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