Abstract
RETT syndrome is a rare,genetic neurodevelopmental disorder that mainly affect girls, at the first 6 months of live the child have a normal psychomotor and cognitive development, then appears a psychomotor regression with loss of hand use and the appearance of manual stereotypies. This syndrome is essentially related to a mutation in the MECP2 gene. We report the case of an 8-year-old girl with RETT syndrome, who showed normal neurological development up to the age of 8 months, with psychomotor regression and manual stereotypy, and no other neurological signs, thus, no epileptic seizures or respiratory disorders such as hyperpnea. Electroencephalography and genetic studies were in favor of RETT syndrome.
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