AbstractMaterial and methods
We have studied the history, clinical data, laboratory and imaging findings of an infant in which disease began with events interpreted as colic, and in the evolution, a metabolic disorder was outlined, associated with hemolysis and cholestasis.Results, Discussion
Infant boy, aged seven months, at the beginning of the period of food diversification, is presented to the third paediatrician, for agitation (mother noting that the infant ‘is not as it used to be’). At previous presentations the changing of the milk formula was recommended, diet modification and Trimebutinum. Clinical examination showed pallor, jaundice, distended abdomen, enlarged liver, agitation. Fever appeared in evolution, with dark urine and acholic stools. Laboratory tests showed hemolysis, hepatocytolisis syndrome, cholestatic syndrome and biliary sludge was detect at ultrasound, afterwards with dilatations of the extrahepatic bile ducts. Subsequently a urinary tract infection with E. coli was documented; MRI examination detected no biliary malformations, but highlights gallstone. The cause of haemolysis was more deeply investigated; electrophoresis of haemoglobin, glucose-6-phosphate dehydrogenase as well as alpha 1 antitrypsin levels were in the normal range; pyruvate kinase erythrocyte was slightly below normal references (repeated after the age of 9 months values were smaller, the same for his mother, the father having normal value).Conclusions
The case illustrates a congenital metabolic abnormality, in a heterozygote, in which infectious episode precipitated the hemolysis with hyperbilirubinemia and respectively cholestasis, translated into abdominal discomfort as the loudest clinical manifestation.