Treatment-Resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome

    July 2016 in “ Pharmacopsychiatry ”
    Simon Langgartner, Wolfgang Strube, Teresa Oviedo, Maximilian Hansbauer, Susanne Karch, Stefanie Wirth, Peter Falkai, Alkomiet Hasan
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    TLDR A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
    The document discusses a case of a non-mosaic Turner Syndrome (TS) individual, a genetic condition where a woman has a missing X chromosome, who exhibited global cerebral atrophy and developed severe treatment-resistant schizophrenia. Turner Syndrome is characterized by physical features such as short stature, underdeveloped secondary sex characteristics, and possible hair loss. Neuropsychological deficits can include mental retardation, memory impairments, and motor functioning issues, with behavioral abnormalities potentially manifesting as schizophrenia and other psychotic disorders. The case study highlights the first reported instance of a TS patient with a non-mosaic 45XO genotype showing both significant cognitive impairment and severe schizophrenia that is resistant to treatment, alongside the finding of reduced cerebral volumes and impaired brain connectivity in TS.
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