17 months old girl, whose mother has type-1 diabetes, was referred to our hospital because of recurrent vomiting, failure to thrive and inappetence.
When hospitalized in a regional hospital 2 months before the referral to our Unit, serological tests for celiac disease (EMA, TGA) were negative. She was diagnosed with lactose intolerance and microcyte anaemia. Despite following strict lactose-free diet, her clinical condition got worsened and was referred to our department.
Upon admission to our hospital she was pale, asthenic with thin legs and arms and distended abdomen. Body weight was 8,5 kg (10 p), body length 79 cm (42 p). Blood tests revealed iron deficiency anaemia, hypoalbuminemia and with mild electrolyte disbalance (elevated chloride level, decreased calcium and phosphate levels). Inflammatory markers (CRP, sedimentation) were normal. Liver transaminases were slightly elevated.
During hospitalization she was vomiting once a day every day. Her stools were normal and regular. On second day, abdominal ultrasound revealed invagination of small bowel and distended large bowel, filled with air and feces. Subsequent abdominal ultrasounds during the next three days revealed multiple small bowel invaginations and enlarged lymph nodes in the left upper and right lower quadrant. Stool culture were positive for C. difficile.
Since the small bowel enteropathy was suspected, upper endoscopy was performed. Histological examination found more than 40 IEL/100 enterocytes, subtotal villous atrophy and crypt hyperplasia, equivalent to Marsh 3 B histological changes. Serology markers were as follows: TGA 34 kU/L (upper limit of normal 16 kU/L), EMA negative, AGA IgG 100 kU/L (upper limit of normal 10 kU/L), AGA IgA 47 kU/L (upper limit of normal 6 kU/L). Level of immunoglobulin A was normal. Genetic tests revealed HLA DQ2 and DQ6 haplotype.
Gluten-free diet was introduced after endoscopy. During the next few days vomiting stopped, she had more energy and her appetite increased. She gradually gained weight. 20 days after admission, she still had mild hypoalbuminemia, other laboratory tests were normal. On follow-up visit 5 months later she was well nourished (weight 12,5 kg) and asymptomatic. Serologic tests for CD were normal. She was on a strict gluten-free and lactose-free diet.
This case presents 17 months old girl with a typical clinical picture of CD with malabsorption syndrome – vomiting, failure to thrive and distended abdomen. First serological tests for celiac disease in a regional hospital were negative despite normal levels of immunoglobulin A and severe clinical picture of celiac disease. Biopsy of duodenum was in this case necessary to establish the diagnosis. Later, elevated TGA and AGA suggested celiac disease, however EMA was negative. After the introduction of gluten-free diet, she gained weight and had no symptoms.