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Type 1 diabetes mellitus and Rett syndrome: is there a link?

机译:Type 1 diabetes mellitus and Rett syndrome: is there a link?

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摘要

Type 1 diabetes mellitus is a T-cell-mediated autoimmune disease that results in the destruction of pancreatic beta cells (1).Rett syndrome (RS) is an X-linked dominant neurodevel-opmental disorder that is included in autism spectrum disorder (ASD) (2). It is characterized by normal early development followed at 6-18 months of age by loss of purposeful use of the hands, stereotypic hand movements, slowed brain and head growth, gait abnormalities, seizures, and mental retardation. It affects females almost exclusively (3, 4).The association of Type 1 diabetes and RS is rare. We report a case of 23-yr-old female patient who was admitted with a 10-day-history of classic symptoms of diabetes (polyuria, polydypsia, weight loss). She was born to non-consanguineous parents. There was no history of diabetes in her family. At the age of 18 months, the diagnosis of RS was made on the grounds of acquired microcephaly, general regression of skills after normal development, stereotypic hand movements, seizures, and mental retardation.

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