Severe rickets in a young girl caused by celiac disease: the tragedy of delayed diagnosis: a case report

• Published in: BMC research notes Vol. 7; no. 1; p. 701
• Main Authors: Al-Sharafi, Butheinah A, Al-Imad, Shafiq A, Shamshair, Amani M, Al-Faqeeh, Derhim H
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 08.10.2014; BioMed Central
• Subjects: Adolescent; Care and treatment; Case Report; Celiac disease; Celiac Disease - complications; Delayed Diagnosis; Diagnosis; Female; Humans; Patient outcomes; Rickets; Rickets - diagnosis; Rickets - etiology; Rickets - pathology; Severity of Illness Index
• ISSN: 1756-0500; 1756-0500
• DOI: 10.1186/1756-0500-7-701

Celiac disease is a systemic immune mediated disease which usually presents with gastrointestinal symptoms, but it may present with extra gastrointestinal manifestations such as metabolic bone disease and failure to thrive. This may lead to a delay in the diagnosis. We present a 13 year old female from the middle east with an 8 year history of severe rickets causing multiple bone deformities leaving the child crippled with bowing of both of her arms and legs. The patient was also found to have growth failure, anemia and on further workup she was found to have celiac disease. We are presenting this case because it shows a severe case of rickets after malabsorption for many years. Celiac disease should be kept in mind as a cause of rickets in patients not responding to usual forms of treatment or when associated with other manifestations of malabsorption.