title: A case of diabetes mellitus associated with Rett syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey. leylabakin@gmail.com
authors.forename: Leyla
authors.initials: L
authors.lastname: Akin
authors.forename: Erdal
authors.initials: E
authors.lastname: Adal
authors.forename: Mustafa Ali
authors.initials: MA
authors.lastname: Akin
authors.forename: Selim
authors.initials: S
authors.lastname: Kurtoglu
mesh_terms: D002648:Child; D018899:CpG Islands; D019175:DNA Methylation; D003922:Diabetes Mellitus, Type 1 / Q000209:etiology*; D005260:Female; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000502:physiology; D015518:Rett Syndrome / Q000150:complications* / Q000235:genetics
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2