Female patient, 4 years old was referred to our hospital due to failure to thrive. She was exclusively breastfed for the first 2 months of life, after which infant formula was introduced as she didn’t made progress on body weight. At 5 months of age, she began feeding with solid foods. At 5.5 months of age, she was referred to our institution due to difficulty with breathing and failure to thrive. At that age her body weight was 5050 g (<3. pct.) and body length 60 cm (10. pct.).
On the basis of clinical findings, low levels of fecal elastase and elevated sweat chloride levels (on two occasions), diagnosis of cystic fibrosis was established. Replacement therapy with pancreatic enzymes and fat-soluble vitamins was initiated. Given the laboratory signs of salt deficiency additional amounts of sodium chloride were introduced in the form of an oral rehydration solution that was well accepted by the infant. With the application of enzyme replacement therapy, the infant began to gain weight and at discharge from hospital, the body weight is 5440 g.
Gastroenterologist, pulmonologist and nutritionist examined the infant on a monthly basis. At 9 months of age, she passed two (although sometimes still fatty) stools a day, with a relatively high dose of enzymes approaching 10.000 IU/kg/day, and she was still not gaining adequately on weight (body weight 6350 g). At 14 months of age, the patient was eating better, and had regular, normal stools, but her body weight was 7.2 kg, which still was not satisfactory. Additional laboratory examination was performed, which determined highly positive tissue transglutaminase antibodies (anti-tTG) of 128 IU/ml. The diagnosis of coeliac disease was confirmed by a non-biopsy approach, with positive endomysial antibodies (EMA) from a second blood draw. A strict gluten-free diet was introduced. After three months repeated serology tests showed lower anti-tTG value of 68 IU/ml.
In our patient, coeliac disease was diagnosed based on the clinical symptoms of failure to thrive despite adequate pancreatic enzyme replacement therapy and highly positive anti-tTG, later confirmed by positive EMA, according to the diagnostic algorithm of European Society for Paediatric Gastroenterology, Hepatology and Nutrition.
This case report showed that cystic fibrosis and coeliac disease can be present in the same patient. Although symptom of failing to thrive can be attributed to cystic fibrosis, in such patients with persisting symptoms despite adequate enzyme replacement treatment, screening for coeliac disease should be performed.