The patient was born in October 1977 to a gravida-5, para-3, abortion-2, 3 1-year-old, healthy African-American woman. The pregnancy was uncomplicated. The patient's father and two older stepbrothers have no known liver disease, and the parents are not consanguineous. At the time of birth, the patient weighed 3.3 kg. She went home 2 days later.
During the following 13 years, she was admitted repeatedly to the hospital. Table 1 shows in chronological order the reasons for the admissions as well as pertinent clinical diagnoses and laboratory findings. As shown in Table 1, rickets and unexplained hepatomegaly were diagnosed when she was 7 months old. She was treated with dihydrotachysterol, and some improvement of the rickets was observed.
In 1979, she was admitted because of a severe Escherichia coli urinary tract infection. She was found to be hyperbilirubinemic and had a bleeding disorder that responded to vitamin K. After the infection had been treated, the bilirubin values returned to normal, and therefore, they were thought to be linked t o the urinary tract disease. Liver biopsy was postponed because of the bleeding. Because of the liver disease, dihydrotachysterol was replaced by calcitriol. In the summer of 1979, the hepatomegaly had disappeared.
The viral pneumonia for which she was treated in April 1980 responded quickly and without sequelae to supportive care. Records stated specifically that no hepatomegaly was observed, and as it turned out, none was observed until much later. A few months later, her medication was again changed to dihydrotachysterol. During all this time, she was stated to be a happy, active child with good appetite. On most occasions when she visited her pediatrician, she was pleasant and cooperative.
Abbreviations: ICC, Indian childhood cirrhosis; N-ICC, non-Indian childhood cirrhosis; 30-HSD, 30-hydroxy-Cz7-steroid dehydrogenase/isomerase deficiency; CACC, copper-associated childhood cirrhosis.