Treatment-Resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome
July 2016
in “
Pharmacopsychiatry
”
Studysummary This case report describes a non-mosaic Turner-Syndrome individual with global cerebral atrophy, significant cognitive impairment, and severe treatment-resistant schizophrenia.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
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.