RT Journal Article
SR Electronic
T1 P125 Rare cause of colic in an infant – hereditary hemolytic anaemia
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP A82
OP A83
DO 10.1136/archdischild-2017-313273.213
VO 102
IS Suppl 2
A1 MARIA, PITEAANA
A1 REKA, BORKABALAS
A1 LIDIA, MAN
A1 OANA, MARGINEAN
YR 2017
UL http://adc.bmj.com/content/102/Suppl_2/A82.2.abstract
AB 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.