Document Detail

A case of diabetes mellitus associated with Rett syndrome.
MedLine Citation:
PMID:  22570976     Owner:  NLM     Status:  In-Process    
Rett syndrome (RS) is a neurodevelopmental disorder mainly affecting girls. It is characterized by a normal prenatal and perinatal period, apparently normal development for the first 6 months of life, and then a decelaration in head growth, loss of hand and communication skills, psychomotor retardation, as well as the development of sterotyped hand movement and truncal or gait apraxia. It has been shown to be related to mutations in the MECP2 gene located on Xq28. Diabetes mellitus (DM) type 1 may be associated with certain genetic disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome. In this work, we report the case of a 9-year-old girl with RS who developed DM at the age of 6. To our knowledge, our patient is the third case reported to date of DM associated with Rett syndrome.
Leyla Akin; Erdal Adal; Mustafa Ali Akin; Selim Kurtoglu
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  25     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2012  
Date Detail:
Created Date:  2012-05-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  197-8     Citation Subset:  IM    
Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
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