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Las Vegas, 1987, Fall
A young couple came to the hospital because they were concerned about their first-born child.
This wasn’t the first time this couple had made a trip to the hospital because something seemed
wrong with their baby boy. When they first brought home their boy, he had turned blue.
At the hospital the doctor said it was a patent ductus arteriosus (PDA) that caused the cyanotic episode.
Indomethacin was given and the baby went back home a couple days later. That was 6 months ago.
Now the parents came to the doctor because the boy was showing some irregular problems with his stool.
The stool was a clay/white color and the baby seemed to not being gaining any weight.
Also they notice the baby has been looking yellow and keeps scratching his butt.
The father told the doctor that his own younger brother died during infancy following a failed liver transplantation.
He still has the autopsy report and says that
what ended up killing his younger brother was a cardiac malformation that wasn’t noticed/treated at the hospital.
The father’s own past medical history is
unremarkable, but he has two relatives with
"progressive familial intrahepatic cholestasis."
Physical exam revealed a malnourished baby with severe growth retardation,
obvious jaundice, and a palpably
enlarged liver. There was
something strange about the eyes as well, and the clinicians
decided to phone the ophthalmologist.
The baby had a broad, prominent forehead; deep-set eyes; and a small, pointed chin.
Temperature is 98.5, pulse 90, RR 16. Physical exam is remarkable upon auscultation of the heart.
A loud systolic murmur was evident. At this time, the baby was not cyanotic.
Lab workup was remarkable for markedly increased conjugated bilirubin,
moderately increased unconjugated bilirubin, slightly increased transaminases,
and bilirubin in the urine. A quick stain for fecal fat confirmed steatorrhea.
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