Copyright
©2009 The WJG Press and Baishideng. All rights reserved.
World J Gastroenterol. Mar 21, 2009; 15(11): 1391-1393
Published online Mar 21, 2009. doi: 10.3748/wjg.15.1391
Published online Mar 21, 2009. doi: 10.3748/wjg.15.1391
Severe dystrophy in DiGeorge syndrome
Barnabás Rózsai, Ákos Kiss, Györgyi Csábi, Tamás Decsi, Department of Pediatrics, University of Pécs, Pécs H-7623, Hungary
Márta Czakó, Department of Medical Genetics and Child Development, University of Pécs, Pécs H-7623, Hungary
Author contributions: Rózsai B as specialist in Pediatrics, Kiss Á as Pediatric resident and Csábi G as Pediatric neurologist participated in the diagnostic procedures and follow-up of the patient. Czakó M performed the genetic studies. Decsi T is the leader of our work-group and the chief of the Pediatric Internal Medicine Ward of our Department.
Correspondence to: Dr. Barnabás Rózsai, Department of Pediatrics, University of Pécs, József Attila u. 7., Pécs H-7623, Hungary. barnabas.rozsai@aok.pte.hu
Telephone: +36-72-535900
Fax: +36-72-535971
Received: September 3, 2008
Revised: February 17, 2009
Accepted: February 24, 2009
Published online: March 21, 2009
Revised: February 17, 2009
Accepted: February 24, 2009
Published online: March 21, 2009
Abstract
We present the case history of a 3-year-old girl who was examined because of severe dystrophy. In the background, cow’s milk allergy was found, but her body weight was unchanged after eliminating milk from her diet. Other types of malabsorption were excluded. Based on nasal regurgitation and facial dysmorphisms, the possibility of DiGeorge syndrome was suspected and was confirmed by fluorescence in situ hybridization. The authors suggest a new feature associated with DiGeorge syndrome.