Her parents were healthy first-cousin adults with O+ blood-group. The father had a neonatal history of jaundice and blood-exchange-transfusion. Her sibling was a normal 4-year-old female, who also had a history of neonatal jaundice that recovered with home phototherapy. The parents denied having any liver/hemolytic or other disorders in the family. She was discharged after 36-hr in a good condition without icterus from the nursery.
She was first icteric on the 4th day with total (T) bilirubin (Bil): 18 mg/dL and direct (D) Bil: 0.6 mg/dL. The parents chose home phototherapy although they were advised for hospital admission. They rechecked bilirubin on the 7th day of life because they felt the jaundice was getting worse. The mother mentioned some poor feeding in her baby. She was hospitalized with TBil: 34 mg/dL and DBil: 2.7 mg/dL, so intensive phototherapy, sepsis tests, and antibiotic therapy were performed. She was prepared for exchange transfusion. The infant responded very well to intensive phototherapy; therefore, the exchange transfusion was withheld. The mother was satisfied with her breastfeeding soon after. Six-hours of intensive phototherapy resulted in TBil: 22 mg/dL and DBil: 1.2 mg/dL. The baby had bronze skin and dark urine, but her stool had a greenish color. In laboratory tests, white blood cells (WBC) were 12,700, hemoglobin (Hb): 16.9 mg/dL, platelet (Plt): 223,000, glucose (Glu): 122 mg/dl, erythrocyte sedimentation rate (ESR): 1 mm/h, C-reactive protein (CRP): 5.3 mg/L, sodium (Na): 147 mmol/L, potassium (K): 5.5 mmol/L, creatinine (Cr): 0.4 mg/dl, reticulocytes (retic): 0.3%, blood group and Rh: O+, glucose-6-phosphate dehydrogenase (G6PD): normal. Urinalysis first showed blood (+1), protein (2+), and bilirubin (2+). The second urine sample was normal. Blood/urine cultures were negative, alanine aminotransferase (ALT) as 91 IU/L, aspartate aminotransferase (AST): 100 IU/L, and thyroid-stimulating hormone (TSH): 1.8 mIU/L. Abdominal ultrasonography was normal, showing normal sized liver/spleen. Cardiac consultation and echocardiography showed normal results. The infant's yellowish and bronze-skin color improved significantly, with normalization of urine color. Stool color was still normal. T/Dbilirubin and hemoglobin levels gradually decreased. She was discharged after 7 days of antibiotic-therapy and advised to be followed as an outpatient with ALT: 61 IU/L, AST: 69 IU/L, gamma-glutamyl transpeptidase (GGT): 25 IU/L, TBil: 9.2 mg/dl, DBil: 1.2 md/dl, Hb: 10.3 mg/dL. The baby still looked icteric and mildly bronzed a week later; she had an acceptable weight gain while on breastfeeding with normal urine/stool color, and neither hepatosplenomegaly nor abdominal distension. At the second outpatient visit, laboratory values were TBil: 5.2 mg/dl and DBil: 2.4 mg/dl, Hb: 9.7 mg/dL, WBC: 7600/mm3, Glu: 169 mg/dl, retic: 0.4%, ALT: 61IU/L, AST: 69 IU/L, and she was still icteric and producing greasy stool. Metabolic screen tests were ordered. A week later, abdominal distension with dark urine and acholic stool developed. She was readmitted. Her feeding was good and she was lively. Hepatosplenomegaly could not be detected because of severe ascites, but abdominal ultrasonography revealed enlarged liver/spleen with a large amount of fluid in the abdominal cavity. Blood tests revealed the following: WBC: 6500/mm3, Plt: 266,000/mm3, Hb: 8.7 mg/dL, mean corpuscular volume (MCV): 110 fl, and retic: 16.7%. A blood-smear showed a large amount of acanthocytes (spur cells). Glu: 169 mg/dl, TBil: 6.3 mg/dl, DBil: 4 mg/dl, ALT: 84 IU/L, AST: 304 IU/L, albumin (Alb): 2.8 mg/dl, ESR: 6 mm/hr, CRP: 5 mg/L, prothrombin time (PT): 21 sec, partial thromboplastin time (PTT): 65 sec, Na: 134 mmol/L, K: 5 mmol/L, ferritin: 2827 ng/ml. Ascitic fluid had Glu: 95 mg/dl, protein: 0.8 mg/dl, WBC: 0-1 mm3, and RBC: 3200 mm3 and a negative culture. Urinalysis showed 12-15 leukocytes unit.
Broad-spectrum antibiotics, vitamin K, packed-cell, and albumin were administrated. In this hospital admission, the mother informed us that three of the paternal second cousins had icterus and abdominal distension requiring exchange-transfusion and one with kernicterus; one of which is still alive. She added no more information. As the patients' records were reviewed, we noticed that their living relative had known galactosemia. The infant's soy-based formula was substituted thereafter.
All fluid cultures were negative except for urine culture which revealed Klebsiella (25,000 colony count). The infant's condition, icterus, and abdominal distention gradually improved. Urine sugar chromatography then also showed a dense galactose band. All tests significantly improved after the lactose-free formula substitution. The baby did well and had normal growth and feeding without icterus in subsequent follow-up visits. Galactose-1-phosphate-urydiltransferase deficiency (<5%) also confirmed the diagnosis. An ophthalmic examination was also normal. Written informed consent was obtained from the patient's family.