Introduction Galactosemia is an autosomal recessive disorder caused by the deficiency of enzyme galactose-1-phosphate uridyltransferase (GALT). The diagnosis of galactosemia should be considered in newborn or young infant with any of the following features: failure to thrive, jaundice, hepatomegaly, vomiting, hypoglycemia, convulsions, cataract, bleeding diathesis, renal tubular acidosis, hepatic cirrhosis or mental retardation. One of the common causes of early death in these children is sepsis, especially with Escherichia Coli. But other organisms like Klebsiella, Staphylococcus, group B streptococcus, Streptococcus faecalis and Candida can be involved in sepsis in these patients.
Case report We are presenting the case of a 1 month-old female with galactosemia who developed fulminant liver failure and sepsis with GBS. She was transferred to our clinic with important jaundice, signs of hepatic encephalopathy and bleeding at the sites of venous puncture. The laboratory parameters relieved increased transaminase level, very high bilirubin level (total bilirubin 20.19 mg/dl, conjugate bilirubin 15.65 mg/dl), and prolonged prothrombin time (24s), with 2.8 INR. Increased excretion of galactose and galactitol was discovered in his urine using nuclear magnetic resonance spectrometry. She presented after birth the clinical signs of sepsis and the blood culture was positive for GBS. Based on the clinical presentation and the laboratory parameters the diagnosis was galactosemia with fulminant liver failure and sepsis with GBS. We administered antibiotics, supportive therapy with fresh frozen plasma, glucose and arginine infusion, erythrocytes transfusion and albumin. Her diet was immediately changed from breast feeding to lactose-free milk and then soy milk. Two weeks later her clinical features and laboratory parameters improved considerable.
Conclusion Septicemia is a known cause of early morbidity and mortality in children with galactosemia. The most common agent is Escherichia Coli, but other bacteria as GBS have been incriminated. A high index of suspicion is necessary for the diagnostic of galactosemia because an early diagnostic is very important as the lactose-free diet can be life-saving. Unfortunately, in our country the neonatal screening program is still unavailable and the diagnosis of galactosemia might be delayed.
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