A case of diabetes mellitus associated with Rett syndrome

Journal of Pediatric Endocrinology & Metabolism : JPEM
Leyla AkinSelim Kurtoglu

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.

Citations

Oct 24, 2014·Biology·Vichithra R B LiyanageJames R Davie
Mar 14, 2017·Frontiers in Cell and Developmental Biology·David Martin, Anne Grapin-Botton
Jul 17, 2021·Obesity Reviews : an Official Journal of the International Association for the Study of Obesity·Daniel ShiDavid Meyre

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