The Turkish Journal of Pediatrics
2006 , Vol 48 , Num 3
A 13-year-old female with Turner syndrome and achalasia
1Departments of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey2Departments of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey Balcı S, Akcan AB, Şenocak ME, Çiftçi AÖ, Ozaltın F. A 13- year-old female with Turner syndrome and achalasia. Turk J Pediatr 2006; 48: 272-274.
The most common gastrointestinal problems associated with Turner syndrome are intestinal telangiectasia, colon carcinomas, inflammatory bowel, and liver diseases. In this paper we present for the first time a 13-year-old female with 45,X karyotype associated with achalasia. As far as we know, achalasia associated with Turner syndrome has not been reported previously. The aim of this report was to point out the association of Turner syndrome and achalasia. It could be a coincidental or Turner syndrome-associated finding.
Keywords : Turner syndrome, achalasia, gastrointestinal malformations