Lucey-Driscoll Syndrome

Benign disorder of metabolism of bilirubin resulting in transient neonatal hyperbilirubinemia (unconjugated bilirubin).

Transient Familial Neonatal Hyperbilirubinemia.

NB: Lucey-Driscoll syndrome is occasionally misspelled “Lucy-Driscoll syndrome.”

Rare; 24 cases reported.

Familial or sporadic. Usually all siblings are affected. Cases transmitted as an autosomal recessive trait (gene map locus is 2q37) have been reported.

A substance, probably a metabolite of gestational hormones (inhibitor of uridine diphosphate [UDP]-glucuronosyltransferase activity), that inhibits bilirubin conjugation is responsible for the disease. This inhibitor is present in the sera of both mother and infant. Unconjugated hyperbilirubinemia, which is more severe than the form observed in breast milk jaundice, is present. Serum bilirubin may reach 40 mg/dl (680 μmol/l).

The presence of significant neonatal jaundice frequently associated with a familial pattern. All siblings are usually affected, and there is frequently a history of the phenomenon occurring in previous generations. Other causes of hyperbilirubinemia should be excluded.

Unconjugated hyperbilirubinemia resulting in jaundice usually presenting on the third to fifth day of life and persisting for 3 weeks. Left untreated, kernicterus may develop. Phototherapy is used to treat the hyperbilirubinemia.

Exclude other causes of hyperbilirubinemia, such as sepsis, hemolytic disease of the newborn, and biliary atresia. Ensure adequate hydration. Obtain coagulation profile and bleeding time.

This syndrome occurs only in neonates; therefore, basic principles of safe neonatal anesthesia must be applied.

Drugs that interfere with metabolism of bilirubin or that may displace bilirubin from albumin could increase the risk of hyperbilirubinemia or kernicterus. Sulfonamides, ceftriaxone, pancuronium, and chloral hydrate are associated with hyperbilirubinemia.

The hereditary hyperbilirubinemias include (1) those resulting in predominantly unconjugated hyperbilirubinemia, such as Gilbert or Arias syndrome, Crigler-Najjar syndrome type I, and Crigler-Najjar syndrome type II; and (2) those resulting in predominantly conjugated hyperbilirubinemia, such as Dubin-Johnson syndrome, Rotor syndrome, and other forms of intrahepatic cholestasis.

Breast Milk Jaundice: Jaundice occurring in breast-fed neonate around the fourth to seventh day of life, persisting beyond physiologic jaundice, and with no other identifiable cause, probably resulting from a milk component that inhibits uridine diphosphoglucuronic acid (UDPGA) glucuronyl transferase, thus resulting in a prolonged unconjugated hyperbilirubinemia.

Crigler-Najjar Syndrome: Inherited error of bilirubin metabolism in which bilirubin cannot be converted into water-soluble bilirubin glucuronide because of a defect of hepatic glucuronyl transferase. Crigler-Najjar syndrome type II is less severe than type I.

Gilbert Syndrome: Characterized by normal liver function tests, normal liver histology, delayed clearance of bilirubin from the blood, and mild jaundice that tends to fluctuate in severity, particularly after fasting. It is defined as a mild unconjugated hyperbilirubinemia resulting from a mutation in the promoter of the UDP-glucuronosyltransferase gene (allelic to the mutation for Crigler-Najjar syndrome type I).

Dubin-Johnson Syndrome: Occurs with a minimal frequency of 1:1300 among Iranian Jews. It is characterized by hyperbilirubinemia, deposition of melanin-like pigment in otherwise normal liver cells, hepatomegaly and abdominal pain, and otherwise normal liver function.

Rotor Syndrome: Considered similar to the Dubin-Johnson syndrome; however, it shows no abnormal hepatic pigmentation and oral cholecystography is often normal. Total coproporphyrin excretion in the urine is markedly increased.