Congenital Familial Nonhemolytic Jaundice With Kernicterus

Seven patients with congenital familial nonhemolytic jaundice with kernicterus are presented. Six of these were hospitalized and studied. One was diagnosed by history. The abnormality appears to be genetically determined, being inherited most likely as a lethal recessive characteristic. The only abnormal laboratory findings are pronounced elevation of indirect serum bilirubin and delayed excretion of injected bilirubin. Pathologically, bile thrombi in the canaliculi were found in all patients studied, with very slight periportal fibrosis present in the liver sections from Cases 1, 5 and 6. In the single brain examined, Case 2, kernicterus was described. The prognosis is extremely poor, the patients generally dying in the first year of life. No therapeutic measures have been found helpful. The similarity to a previously described disease, familial nonhemolytic jaundice, is discussed.