Abstract
LG is the first child of Caucasian parents living in UK. There is no family history of CF. LG was born in France at 39+3 weeks of gestation with a birth weight of 2780 g (9 th centile). Guthrie test performed in France was negative for CF. LG lived in France for the first 5 weeks of life and came back to UK. She had been breastfed and regained her birth weight at 1 month of age. At 8 weeks of age, LG was seen in Paediatric clinic for failure to thrive. Family went to Jordan for work reasons at 10 weeks of age, where she was found falling off her centiles. Paediatrician requested blood tests which showed significant anaemia (Hb 6.8 g/L). LG came back to UK and was admitted to the hospital at 13 weeks of age. On admission her weight had dropped to 0.4 th centile. She had hyperferritinaemia, hypoalbuminaemia, hypotransferrinaemia, raised GGT, normal ALT, normal bilirubin, raised ALP, low fibrinogen, anaemia with rest of FBC normal and splenomegaly. Extensive haematological tests were performed including bone marrow aspirate. Investigation for failure to thrive and malabsorption revealed exocrine pancreatic insufficiency (stool elastase
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