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Vol 20, No 5
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<p class="frontmatter-fieldnotes disclaimernew" style="margin-bottom:15px;">This work may not be copied, distributed, displayed, published, reproduced, transmitted, modified, posted, sold, licensed, or used for commercial purposes. By downloading this file, you are agreeing to the publisher’s <a href="/pages/termsofuse.aspx" target="_blank">Terms & Conditions</a>.</p> <div id="_idContainer000">
  <p class="ltrs-br-ltr-br-title"><span class="bold"><a id="_idTextAnchor000"></a>Psychotic Features of Turner Syndrome</span></p>
  <p class="ltrs-br-ltr-br-body-text"><span class="semibold">To the Editor:</span> Turner syndrome is a genetic disorder characterized by partial or complete X chromosome monosomy, which occurs at birth in approximately 1 in 2,000 females.<span class="htm-cite"><a href="#ref1">1</a></span> Only a small number of studies<span class="htm-cite"><a href="#ref2">2</a></span> describe the psychopathologic features of Turner syndrome, with many girls exhibiting immaturity, poor self-esteem, and social relationship difficulties. Turner syndrome is 3 times more common among female schizophrenic patients,<span class="htm-cite"><a href="#ref3">3</a></span> and individuals with Turner syndrome are at an increased risk for autism spectrum disorders, attention-deficit/hyperactivity disorder, and intellectual disability.<span class="htm-cite"><a href="#ref2">2</a></span> The potential role of X chromosome genes (pseudoautosomal and nonpseudoautosomal regions) in schizophrenia pathogenesis has been investigated.<span class="htm-cite"><a href="#ref4">4</a>,<a href="#ref5">5</a></span> We report a case of a unspecified schizophrenia spectrum disorder (<span class="italic">DSM-5</span>) in a woman with Turner syndrome.</p>
  <p class="ltrs-br-ltr-br-body-text">&nbsp;</p>
  <p class="ltrs-br-ltr-br-body-text"><span class="semibold-ital">Case report.</span> Ms A is a 24-year-old woman with Turner syndrome. She was diagnosed with persistent depressive disorder associated with anxious distress (<span class="italic">DSM-5</span>) at the age of 21 years and was prescribed escitalopram 20 mg/d, trazodone 50 mg/d, and mexazolam 1 mg/d. Additionally, she has a medical history of dyslipidemia, which was treated with atorvastatin, and a family history of major depressive disorder and suicide attempts.</p>
  <p class="ltrs-br-ltr-br-body-text">In August 2017, Ms A was admitted to the neurology ward of a general hospital due to new-onset holocephalic headache with photophobia and right-sided half-body paresthesia. No focal signs were identified during the neurologic examination. The clinical picture was interpreted as a migraine with atypical aura. According to Ms A’s family, symptomatology emerged after recent life stress events, including PhD interviews and a broken partnership.</p>
  <p class="ltrs-br-ltr-br-body-text">During the first days after admission, the migraine remitted with symptomatic therapy. Physical and neurologic examinations and laboratory tests, including toxicology and serology, were unremarkable. Lumbar puncture, electroencephalogram, and cerebral magnetic resonance imaging showed no changes. Cerebrospinal fluid and serum anti–<span class="italic">N</span>-methyl-<span class="smallcaps">d</span>-aspartate and anti–α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibodies were requested to exclude the remote possibility of autoimmune encephalitis.</p>
  <p class="ltrs-br-ltr-br-body-text">Ten days later, Ms A presented with perplexity, psychomotor and speech retardation, disorganized behavior, labile mood, somatic anxiety, and psychotic symptoms, namely acoustic-verbal hallucinations and persecutory, reference, and misidentification delusions, with the patient identifying the hospital staff as family members. During a family interview with the liaison psychiatry team after the onset of psychotic symptomatology, her parents reported sporadic derealization episodes and reference delusions that started a few weeks before admission.</p>
  <p class="ltrs-br-ltr-br-body-text">Ms A was transferred to the psychiatric ward and diagnosed with unspecified schizophrenia spectrum and other psychotic disorder (<span class="italic">DSM-5</span>) and was started on paliperidone 6 mg/d and bromazepam 3 mg/d. Psychotic symptomatology remitted completely in 10 days, and the patient was discharged.</p>
  <p class="ltrs-br-ltr-br-body-text">&nbsp;</p>
  <p class="ltrs-br-ltr-br-body-text">This case report shares important features with the few reported cases of psychosis in Turner syndrome patients,<span class="htm-cite"><a href="#ref6">6</a></span> namely the presence of previous heterogeneous diagnoses, stress-precipitated onset, psychotic features that remit or respond well to antipsychotics, and labile mood and prominent anxiety symptoms. Contrary to some reported cases of Turner syndrome in which abnormalities in parietal lobe, amygdala, hippocampus, and orbito-frontal cortex were documented,<span class="htm-cite"><a href="#ref7">7</a></span> no changes were found on neuroanatomical imaging.</p>
  <p class="ltrs-br-ltr-br-body-text">According to the available evidence, the prognosis of these psychotic episodes tends to be favorable, with a relatively benign course. However, given previous satisfactory premorbid functioning, family history of affective disorders and suicide attempts, and presence of previous depressive episodes together with this psychotic episode, a differential diagnosis of bipolar disorder must be considered.</p>
  <p class="ltrs-br-ltr-br-body-text">On the other hand, the similarities between reported cases may lead us to hypothesize that the psychotic syndrome in Turner syndrome may be understood as distinct of other psychotic syndromes, with unique features. Further investigation is necessary to clarify the link between psychosis and Turner syndrome and to determine the potential unicity of this syndrome to avoid an erroneous and more serious diagnosis.</p>
  <p class="references_references-heading"><span class="bold">References</span></p>
  <p class="references-references-text-1-9"><a name="ref1"></a><span class="htm-ref"> 1.&#9;</span>Gravholt CH. Clinical practice in Turner syndrome. <span class="italic">Nat Clin Pract Endocrinol Metab</span>. 2005;1(1):41–52. <a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=16929365&amp;dopt=Abstract"><span class="pubmed-crossref">PubMed</span></a> <a href="https://doi.org/10.1038/ncpendmet0024"><span class="pubmed-crossref">CrossRef</span></a></p>
  <p class="references-references-text-1-9"><a name="ref2"></a><span class="htm-ref"> 2.&#9;</span>Saad K, Abdelrahman AA, Abdel-Raheem YF, et al. Turner syndrome: review of clinical, neuropsychiatric, and EEG status: an experience of tertiary center. <span class="italic">Acta Neurol Belg</span>. 2014;114(1):1–9. <a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=24338760&amp;dopt=Abstract"><span class="pubmed-crossref">PubMed</span></a> <a href="https://doi.org/10.1007/s13760-013-0264-9"><span class="pubmed-crossref">CrossRef</span></a></p>
  <p class="references-references-text-1-9"><a name="ref3"></a><span class="htm-ref"> 3.&#9;</span>Carlone C, Pompili E, Silvestrini C, et al. Aripiprazole once-monthly as treatment for psychosis in Turner syndrome: literature review and case report. <span class="italic">Riv Psichiatr</span>. 2016;51(4):129–134. <a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=27727262&amp;dopt=Abstract"><span class="pubmed-crossref">PubMed</span></a> <a href="https://doi.org/10.1708/2342.25114"><span class="pubmed-crossref">CrossRef</span></a></p>
  <p class="references-references-text-1-9"><a name="ref4"></a><span class="htm-ref"> 4.&#9;</span>DeLisi LE, Maurizio AM, Svetina C, et al. Klinefelter’s syndrome (XXY) as a genetic model for psychotic disorders. <span class="italic">Am J Med Genet B Neuropsychiatr Genet</span>. 2005;135B(1):15–23. <a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=15729733&amp;dopt=Abstract"><span class="pubmed-crossref">PubMed</span></a> <a href="https://doi.org/10.1002/ajmg.b.30163"><span class="pubmed-crossref">CrossRef</span></a></p>
  <p class="references-references-text-1-9"><a name="ref5"></a><span class="htm-ref"> 5.&#9;</span>Zatz M, Vallada H, Melo MS, et al. Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain? <span class="italic">J Med Genet</span>. 1993;30(2):131–134. <a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=8445617&amp;dopt=Abstract"><span class="pubmed-crossref">PubMed</span></a> <a href="https://doi.org/10.1136/jmg.30.2.131"><span class="pubmed-crossref">CrossRef</span></a></p>
  <p class="references-references-text-1-9"><a name="ref6"></a><span class="htm-ref"> 6.&#9;</span>Catinari S, Vass A, Heresco-Levy U. Psychiatric manifestations in Turner Syndrome: a brief survey. <span class="italic">Isr J Psychiatry Relat Sci</span>. 2006;43(4):293–295. <a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=17338450&amp;dopt=Abstract"><span class="pubmed-crossref">PubMed</span></a></p>
  <p class="references-references-text-1-9"><a name="ref7"></a><span class="htm-ref"> 7.&#9;</span>Good CD, Lawrence K, Thomas NS, et al. Dosage-sensitive X-linked locus influences the development of amygdala and orbitofrontal cortex, and fear recognition in humans. <span class="italic">Brain</span>. 2003;126(pt 11):2431–2446. <a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=12958079&amp;dopt=Abstract"><span class="pubmed-crossref">PubMed</span></a> <a href="https://doi.org/10.1093/brain/awg242"><span class="pubmed-crossref">CrossRef</span></a></p>
  <p class="ltrs-br-ltr-br-author"><span class="bold">Pedro Câmara Pestana, MD</span><span class="superscript">a</span></p>
  <p class="ltrs-br-ltr-br-author"><a href="mailto:p.camarapestana@gmail.com">p.camarapestana@gmail.com</a></p>
  <p class="ltrs-br-ltr-br-author"><span class="bold">Inês Duarte Silva, MD</span><span class="superscript">a</span></p>
  <p class="ltrs-br-ltr-br-author"><span class="bold">André L. B. Ferreira, MD</span><span class="superscript">a</span></p>
  <p class="ltrs-br-ltr-br-author"><span class="bold">Tiago A. Duarte, MD</span><span class="superscript">a</span></p>
  <p class="ltrs-br-ltr-br-author"><span class="bold">Susana Loureiro, MD</span><span class="superscript">a</span></p>
  <p class="end-matter"><span class="superscript">a</span>Serviço de Psiquiatria e Saúde Mental do Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Av. Prof. Egas Moniz, 1649-035 Lisbon, Portugal</p>
  <p class="end-matter"><span class="bold-italic">Potential conflicts of interest:</span> <span class="semibold">Dr Câmara Pestana</span> reports nonfinancial support from Janssen-Cilag, Lundbeck Portugal, and Servier Portugal. <span class="semibold">Dr Duarte Silva</span> reports nonfinancial support from Janssen-Cilag Lundbeck Portugal, Servier Portugal. <span class="semibold">Dr Ferreira</span> reports nonfinancial support from Janssen-Cilag, Lundbeck Portugal, and Angelini. <span class="semibold">Dr Duarte </span>reports nonfinancial support from Janssen-Cilag, Lundbeck Portugal, Servier Portugal, and Tecnifar. <span class="semibold">Dr Loureiro</span> reports no conflicts of interest related to the subject of this report.</p>
  <p class="end-matter"><span class="bold-italic">Funding/support:</span> None.</p>
  <p class="end-matter"><span class="bold-italic">Patient consent:</span> Permission was received from the patient to publish this case report, and information has been de-identified to protect anonymity.</p>
  <p class="end-matter"><span class="bold-italic">Published online:</span> October 18, 2018.</p>
  <p class="end-matter"><span class="italic">Prim Care Companion CNS Disord 2018;20(5):17l02237</span></p>
  <p class="front-matter-rule"><span class="bold-italic">To cite:</span> Câmara Pestana P, Duarte Silva I, Ferreira ALB, et al. Psychotic features of Turner syndrome. <span class="italic">Prim Care Companion CNS Disord.</span> 2018;20(5):17l02237.</p>
  <p class="doi-line"><span class="bold-italic">To share: </span>https://doi.org/<span class="doi">10.4088/PCC.17l02237</span></p>
  <p class="end-matter"><span class="italic">© Copyright 2018 Physicians Postgraduate Press, Inc.</span></p>
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