- Arias’ syndrome
A familial form of congenital hyperbilirubinemia associated with severe disorders of the central nervous system and resembling kernicterus (degeneration of the basal ganglia). Other symptoms include jaundice of the skin, sclera, and mucous membrane. The syndrome is caused by an enzyme deficiency in the liver and faulty bilirubin conjugation. Both sexes affected. Presents with severe jaundice in the first few days after birth. Inheritance is autosomal dominant with incomplete penetration and varied expressivity.
A deficiency of glucuronide formation was demonstrated by Irwin Monroe Arias in an anicteric father of two jaundiced children with a defect of hepatic glucuronyl transferase activity. This is sometimes referred to as Crigler-Najjar, type II. In Type I (above) death from kernicterus usually occurs within 15 months after birth. In Type II, which has been called Arias’ syndrome, the patient may survive to young adult life.
Hyperbilirubinaemia in newborn in Crigler-Najjar syndrome is called Najjar-Crigler icterus.
- J. F.Crigler, V. A. Najjar:
Congenital familial nonhemolytic jaundice with kernicterus.
Pediatrics, Evanston, Illinois, 1952, 10: 169-180.
- M Arias:
Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults.
Journal of Clinical Investigation, New York, 1962, 41: 2233-2245.
- R. Schmid, A. F. McDonagh:
In: J. B Stanbury, J. B.Wyngaarden, D. S. Fredrickson, et al (editors): The Metabolic Basis of Inherited Disease. 4th ed. New York, McGraw-Hill, 1978, pp. 1221-1257.
- A.W Wolkoff, J. R. Chowdhury, I. M. Arias:
Hereditary jaundice and disorders of bilirubin metabolism.
In: J. B Stanbury, J. B.Wyngaarden, D. S. Fredrickson, et al (editors): The Metabolic Basis of Inherited Disease. 5th ed. 1983. p 1385.