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Pathological Case of the Month

Lewis Barness, MD; Enid Gilbert-Barness, MD
Am J Dis Child. 1992;146(6):769-770. doi:10.1001/archpedi.1992.02160180129033.
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A 4-year-old girl presented with the chief complaint of jaundice and failure to thrive. At birth, she weighed 1.7 kg. Neonatal jaundice and ascites were present, but resolved in 2 weeks. She was discharged from the hospital at age 5 weeks weighing 2.1 kg. She gained weight poorly and was readmitted at age 4 months. She was jaundiced. Laboratory values in serum were as follows: total bilirubin, 110 μmol/L (80% direct); alanine aminotransferase, 240 U/L; aspartate aminotransferase, 75 U/L; and ammonia, 160 μmol/L. Levels of urine and serum amino acids were also determined. She started on a low-protein diet and was discharged from the hospital.

She was unavailable for follow-up until presentation. At that time, her serum bilirubin level was 444 μmol/L. Two weeks after admission, she developed acute gastrointestinal bleeding. Laboratory values were as follows: platelet count, 35 × 109/L; serum ammonia, 125 μmol/L; alkaline phosphatase, 17.9


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