Abstract
Celiac Disease is an immune mediated enteropathy, with wide spectrum of extra intestinal manifestation and rare autoimmune and syndromic associations. We report one such exclusive extra intestinal manifestation of celiac disease with association of Turner syndrome. DOI: http://dx.doi.org/10.3126/jnps.v33i3.7829 J. Nepal Paediatr. Soc. 2013;33(3):218-219
Highlights
Celiac Disease is an immune - mediated enteropathy caused by permanent sensitivity to gluten in genetically susceptible individuals
Celiac Disease is an immune mediated enteropathy, with wide spectrum of extra intestinal manifestation and rare autoimmune and syndromic associations. We report one such exclusive extra intestinal manifestation of celiac disease with association of Turner syndrome
Considering the proportionate short stature in a girl with short neck, an association of Turner Syndrome was suspected which was confirmed by Chromosome analysis (45, XO)
Summary
Celiac Disease is an immune - mediated enteropathy caused by permanent sensitivity to gluten in genetically susceptible individuals. It develops after dietary exposure to the protein gluten, which is found in wheat and rye[1] It is primarily an enteropathy, it may manifest with a number of extra-intestinal manifestations[2]. We report one such rare presentation of Celiac Disease. This 13 year old girl presented with effort intolerance and easy fatigability of eight years duration. She was found to have severe pallor. Anthropometry revealed severe stunting with proportionate short stature [Weight - 21 kg (45% of 50th centile). Small intestinal biopsy was done which confirmed the diagnosis
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