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Late diagnosis of celiac disease in an asymptomatic infant with growth failure
The clinical spectrum for celiac disease (CD) is broad and includes cases with either typical (intestinal) or atypical (extraintestinal) features, often making the diagnosis of CD very difficult. We describe the case of a girl presenting with stunted growth and malnourishment. She was evaluated at 1...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3896748/ https://www.ncbi.nlm.nih.gov/pubmed/24428915 http://dx.doi.org/10.1186/1824-7288-40-4 |
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author | Bozzola, Mauro Bozzola, Elena Pagani, Sara Mascolo, Amelia Porto, Rossella Meazza, Cristina |
author_facet | Bozzola, Mauro Bozzola, Elena Pagani, Sara Mascolo, Amelia Porto, Rossella Meazza, Cristina |
author_sort | Bozzola, Mauro |
collection | PubMed |
description | The clinical spectrum for celiac disease (CD) is broad and includes cases with either typical (intestinal) or atypical (extraintestinal) features, often making the diagnosis of CD very difficult. We describe the case of a girl presenting with stunted growth and malnourishment. She was evaluated at 14 months for decreased growth rate without any signs of gastrointestinal, renal or endocrine disorders. She was evaluated for CD, but resulted negative for anti-tTG antibodies. At the age of 4.1 years, she exhibited basal dental enamel hypoplasia, iron deficiency anaemia despite repeated iron supplementation, with persistent reduced height (-2.79 SDS), BMI (-0.76 SDS), growth velocity (-1.79 SDS) and delayed bone age (1.5 year). The CD screening was repeated and very high anti-tTG-IgA (128 IU/ml, normal values < 7 IU/ml) and anti-tTG-IgG (77 IU/ml, normal values < 7 IU/ml) values were found. HLA genotyping revealed an HLA DQ2 haplotype. A duodenal biopsy revealed severe villous atrophy with crypt hyperplasia and increased intraepithelial lymphocytes (> 40 IELs/100 epithelial cells) confirming the diagnosis of CD. A gluten-free diet was started and after only four months, her growth velocity increased from 4.83 cm/year (-1.79 SDS) to 6.53 cm/year (-0.15 SDS). In conclusion, we report the development of a positive serology for CD in an asymptomatic child with growth retardation, who previously was investigated for CD and resulted negative. Therefore, when faced with retarded growth in young patients, after excluding other malabsorption conditions and even when CD serological markers are negative, the paediatric endocrinologist should request HLA genotyping, before the intestinal biopsy, in order to check for the presence of risk alleles. |
format | Online Article Text |
id | pubmed-3896748 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-38967482014-01-31 Late diagnosis of celiac disease in an asymptomatic infant with growth failure Bozzola, Mauro Bozzola, Elena Pagani, Sara Mascolo, Amelia Porto, Rossella Meazza, Cristina Ital J Pediatr Case Report The clinical spectrum for celiac disease (CD) is broad and includes cases with either typical (intestinal) or atypical (extraintestinal) features, often making the diagnosis of CD very difficult. We describe the case of a girl presenting with stunted growth and malnourishment. She was evaluated at 14 months for decreased growth rate without any signs of gastrointestinal, renal or endocrine disorders. She was evaluated for CD, but resulted negative for anti-tTG antibodies. At the age of 4.1 years, she exhibited basal dental enamel hypoplasia, iron deficiency anaemia despite repeated iron supplementation, with persistent reduced height (-2.79 SDS), BMI (-0.76 SDS), growth velocity (-1.79 SDS) and delayed bone age (1.5 year). The CD screening was repeated and very high anti-tTG-IgA (128 IU/ml, normal values < 7 IU/ml) and anti-tTG-IgG (77 IU/ml, normal values < 7 IU/ml) values were found. HLA genotyping revealed an HLA DQ2 haplotype. A duodenal biopsy revealed severe villous atrophy with crypt hyperplasia and increased intraepithelial lymphocytes (> 40 IELs/100 epithelial cells) confirming the diagnosis of CD. A gluten-free diet was started and after only four months, her growth velocity increased from 4.83 cm/year (-1.79 SDS) to 6.53 cm/year (-0.15 SDS). In conclusion, we report the development of a positive serology for CD in an asymptomatic child with growth retardation, who previously was investigated for CD and resulted negative. Therefore, when faced with retarded growth in young patients, after excluding other malabsorption conditions and even when CD serological markers are negative, the paediatric endocrinologist should request HLA genotyping, before the intestinal biopsy, in order to check for the presence of risk alleles. BioMed Central 2014-01-15 /pmc/articles/PMC3896748/ /pubmed/24428915 http://dx.doi.org/10.1186/1824-7288-40-4 Text en Copyright © 2014 Bozzola et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Bozzola, Mauro Bozzola, Elena Pagani, Sara Mascolo, Amelia Porto, Rossella Meazza, Cristina Late diagnosis of celiac disease in an asymptomatic infant with growth failure |
title | Late diagnosis of celiac disease in an asymptomatic infant with growth failure |
title_full | Late diagnosis of celiac disease in an asymptomatic infant with growth failure |
title_fullStr | Late diagnosis of celiac disease in an asymptomatic infant with growth failure |
title_full_unstemmed | Late diagnosis of celiac disease in an asymptomatic infant with growth failure |
title_short | Late diagnosis of celiac disease in an asymptomatic infant with growth failure |
title_sort | late diagnosis of celiac disease in an asymptomatic infant with growth failure |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3896748/ https://www.ncbi.nlm.nih.gov/pubmed/24428915 http://dx.doi.org/10.1186/1824-7288-40-4 |
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