Common events, especially under 3 months of age (manifested as crying more or less continuously, abdominal distension, agitation of limbs), colics of infant have incomplete clarified aetiology; differential diagnosis is laborious and therapeutic measures are varied in way and effectiveness.
The objective was to present a case in which infants colics had hidden a rare, sometimes underdiagnosed disease.
Material 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.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.