Late diagnosis of celiac disease in an asymptomatic infant w
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Background
CD is an immune-mediated disease which is triggered by the ingestion of gliadin and other prolamines which are toxic in genetically susceptible subjects. The genetic risk factors for CD have been well characterized. In fact, more than 90% of patients share the major histocompatibility complex II class human leukocyte antigen (HLA)-DQ2 haplotype and most of the remaining subjects carry HLA-DQ8. Subjects negative for both HLA-DQ2 and -DQ8 are very unlikely to suffer from CD. Therefore, HLA genotyping is an important as exam for first degree relatives or as a supporting test when biopsy is excluded due to its invasive nature in symptomatic subjects with high antibody levels.
Occasionally, the diagnosis of CD can be difficult in patients in whom serological markers are absent. As suggested by the new ESPGHAN guidelines, if there is a strong suspicion of CD, despite a negative serology, a small bowel biopsy has to be performed.
Here, we describe an asymptomatic child with stunted growth and negative serology, in whom CD was not diagnosed at the first evaluation, but later during the follow-up when she became seropositive for CD.

Case presentation
A 4.1-year-old girl was referred to our department for failure to thrive and anorexia. She was born at term after an uneventful pregnancy with a weight of 3,230 g, a length of 52 cm and head circumference of 34.5 cm. The perinatal period was normal and her Apgar score was 9 at 5 min. She received formula from birth. Gluten was included for the first time at the age of seven months, without any adverse gastrointestinal effects. The target height of the girl was 163 cm (0.13 SDS). Both parents are healthy and unrelated, and had normal development during puberty.....

https://ijponline.biomedcentral.com/articles/10.1186/1824-7288-40-4
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