CONGENITAL CMV INFECTION PRESENTING AS TYROSINEMIA

Abstract

An infant male born at 28 weeks gestation to unrelated caucasian parents was found at 8 weeks to have hepatosplenomegaly and a bilirubin of 8.1/4.6 mg/dl. The SGOT was 226 I.U., and the alkaline phosphatase was 1700 I.U. At 12 weeks, 2+ urinary reducing substance prompted referral for metabolic studies, and the plasma tyrosine was found to be 7.09 mg/dl (nl 0.5-1.3 mg/dl). The infant was small (2280 g. at 15 weeks), deeply jaundiced, and had a liver palpable 3cm below the RCM. The bilirubin was 7.0/2.7 mg/dl, SGOT 166 I.U., SGPT 48 I.U., alkaline ph phatase 1780 I.U., NH3 79 mg/dl, and BUN 3. Titers for rubella, herpes and CMV were all <1:8. A quantitative VDRL was negative. On a protein restricted diet (1 g/kg/day), the plasma tyrosine became normal. Oral phenylalanine loading tests (100 mg/kg) both off and on Vit. C (100 mg/day) showed markedly high and prolonged elevations of the plasma concentration of tyrosine, approximately 5.0 mg/dl at 8 hours. This pattern is the one classically reported in hereditary tyrosinemia. Plasma methionine and urinary δ-amino-levulinic acid were not elevated and a fructose tolerance test was normal. Three urine cultures were positive for CMV. Liver function tests have returned to normal and at 6 months the infant is gaining weight. These observations indicate that perinatal infection with this virus can produce a clinical and chemical picture that must be added to the differential diagnosis of heredity tyrosinemia.