The International Journal of Romanian Society of Endocrinology / Registered in 1938

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July - September 2010, Volume 6, Issue 3
Case Report

Lesanu G, Becheanu C, Olteanu BS, Oraseanu D

Celiac disease and vitamin D dependent rickets type I. Case report

Acta Endo (Buc) 2010, 6 (3): 381-386
doi: 10.4183/aeb.2010.381

A 5 year 2 months old boy was admitted in our hospital for failure to thrive, muscle weakness, bowing of legs, walking difficulties. At the age of 14 months he had been investigated for failure to thrive. Clinical, biochemical and radiologic signs were suggestive for rickets. Positive celiac serology and histology of the small bowel were consistent with the diagnosis of celiac disease (CD). Treatment included parenteral vitamin D and gluten free diet. The parents did not accept the diet, but the child received a daily vitamin D supplementation of 1000 IU. At the age of 4 years celiac serology was positive and the second duodenal biopsy was normal. \r\nPhysical examination, biochemical data, and rachitic changes on x-ray were compatible with the diagnosis of rickets. Clinically severe rickets, hypocalcemia, elevated level of PTH demonstrating secondary hyperparathyroidism, and low level of calcitriol determined the diagnosis of vitamin D-dependent rickets type I (VDDR I). Although being on a normal diet, tissue antitransglutaminase antibodies were negative, but HLA genotyping showed DQ2 positive. \r\nThe patient associated the diagnosis of VDDR I and latent CD. The VDDR I was masked by CD, rickets being attributed to malabsorption.

Keywords: celiac disease, vitamin D dependent rickets type I, child

Correspondence: Gabriela Lesanu MD, Grigore Alexandrescu Emergency Pediatric Hospital-Iancu de Hunedoara 30-32 sector 1, Bucharest 011743 Romania, Email: