Abstract
This nine-year-old girl presented with progressive loss of developmental milestones. At age 18 months, she developed near-continuous mouthing and repetitive hand movements. These movements were present only while she was awake; they were restrainable, but she could not suppress them. The movements impaired the girl's ability to use objects. In addition, she had occasional generalized seizures and microcephaly. The physical examination revealed near-continuous complex mouthing and clapping-like hand stereotypies (video). MECP2 gene sequencing revealed a pathogenic mutation suggestive of Rett syndrome.
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