Tangier disease in a Turkish family.

Abstract

In this report we describe the upper gastrointestinal tractus involvement in a rare genetic disease of lipid metabolism. A 12-year-old boy presented with sore throat and fever. On physical examination, orange-yellow tonsils and adenoid tissue were noted. Mild hepatosplenomegaly was present. Lipid profile was compatible with Tangier disease (TD). Endoscopy of the upper gastrointestinal tract showed white-yellowish fatty deposits on the gastric mucosa. Microscopically, biopsy specimens contained numerous histiocytes with a foamy cytoplasm packed in the lamina propria of the gastric mucosa and at the crypt basement of the duodenum. His sister, 8 years old, was also diagnosed with TD based on abnormal lipid profile and orange-yellow tonsils. TD is a rare familial disorder of lipid metabolism, characterized by deposition of cholesteryl esters, probably involving the entirety of the gastrointestinal tract from the mouth to the anus.

• Authors: Neriman Sahiner, Mukadder Kocak, Fulya Demirceken, Ucler Kisa, Sebnem Ayva, Mustafa Kazkayasi
• Journal: Pediatrics international : official journal of the Japan Pediatric Society (Pediatr Int) Vol. 56 Issue 5 Pg. 777-9 (Oct 2014) ISSN: 1442-200X [Electronic] Australia
• PMID: 25335997 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2014 Japan Pediatric Society.

Topics

• Child
• Female
• Humans
• Male
• Tangier Disease (diagnosis, genetics)
• Turkey