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Clinical profile of a male with Rett syndrome

  • Sarojini S. Budden
    Correspondence
    Corresponding author. Fax: +1 503 494 4447.
    Affiliations
    Department of Pediatrics, Child Development and Rehabilitation Center, Doernbecher Children's Hospital, Oregon Health and Science University, CDRC 707 SW Gaines Road. Portland, Oregon 97239, USA
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  • Heather C. Dorsey
    Affiliations
    Department of Obstetrics-Gynecology, Center for Women's Health, Doernbecher Children's Hospital, Oregon Health and Science University, CDRC 707 SW Gaines Road. Portland, Oregon 97239, USA
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  • Robert D. Steiner
    Affiliations
    Departments of Pediatrics and Molecular and Medical Genetics. Child Development and Rehabilitation Center, Doernbecher Children's Hospital, Oregon Health and Science University, CDRC 707 SW Gaines Road. Portland, Oregon 97239, USA
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      Abstract

      We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosis and has osteoporosis sleep problems and sludging in his gall bladder. Prior to diagnosis he underwent comprehensive neurological, metabolic and genetic investigations. After his older sister was diagnosed with atypical Rett syndrome; MECP2 mutation studies on him revealed a pathogenic mutation. His mother is a Rett carrier with a skewed inactivation of chromosome X. Clinical signs and symptoms required to meet the criteria for diagnosis of Rett syndrome have gradually evolved over time. This case demonstrates an unusual family history for Rett syndrome and alerts readers to the utility of screening males for Rett syndrome.

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