본문 바로가기
KERD
논문KCI 등재

Various Psychiatric Manifestation in DiGeorge Syndrome (22q11.2 Deletion Syndrome): A Case Report

2

조회

0

다운로드

0

인용

0

참고문헌

키워드

초록

This case report aimed to describe various psychiatric manifestation and treatment course in a patient with DiGeorge syndrome. Psychiatric symptoms and treatment course in a female patient with DiGeorge syndrome were described. This patient showed psychotic symptoms, mood symptoms, and intellectual disability. As well as various psychiatric symptoms, treatment response and sensitivity of side effect by antipsychotics were different from typical characteristics in psychiatric disorders. This case suggests that the genetic defect in DiGeorge syndrome might have a great association with psychiatric problems and response of antipsychotics.

Abstract

This case report aimed to describe various psychiatric manifestation and treatment course in a patient with DiGeorge syndrome. Psychiatric symptoms and treatment course in a female patient with DiGeorge syndrome were described. This patient showed psychotic symptoms, mood symptoms, and intellectual disability. As well as various psychiatric symptoms, treatment response and sensitivity of side effect by antipsychotics were different from typical characteristics in psychiatric disorders. This case suggests that the genetic defect in DiGeorge syndrome might have a great association with psychiatric problems and response of antipsychotics.

참고문헌 (20)

  1. Shprintzen RJ, "Velo-cardio-facial syndrome", Curr Opin Pediatr, 17, pp.725~730 (2005)
  2. Ryan AK, "Spectrum of clinical features associated with interstitial chromosome 22q11 deletions : a European collaborative study", J Med Genet, 34, pp.798~804 (1997)
  3. McDonald-McGinn DM, "Chromosome 22q11.2deletion syndrome (DiGeorge syndrome", velocardiofacial syndrome), 2011, pp.90, 1~18
  4. Scambler PJ, "Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus", Lancet, 339, pp.1138~1139 (1992)
  5. Bassett AS, "Schizophrenia and 22q11.2 deletion syndrome", Curr Psychiatry Rep, 10, pp.148~157 (2008)
  6. Schneider M, "Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome:results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome", Am J Psychiatry, 171, pp.627~639 (2014)
  7. Cascella M, "Early onset intellectual disability in chromosome 22q11.2 deletion syndrome", Rev Chil Pediatr, 86, pp.283~286 (2015)
  8. Kobrynski LJ, "Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes", Lancet, 370, pp.1443~1452 (2007)
  9. Fusar-Poli P, "The psychosis high-risk state : a comprehensive state-of-the-art review", JAMA Psychiatry, 70, pp.107~120 (2013)
  10. Schultze-Lutter F, "Revisiting the basic symptom concept : toward translating risk symptoms for psychosis into neurobiological targets", Front Psychiatry, 7, pp.9~ (2016)
  11. Tastuzawa Y, "An interictal schizophrenia-like psychosis in an adult patient with 22q11.2 deletion syndrome", Epilepsy Behav Case Rep, 3, pp.36~38 (2015)
  12. Boot E, "COMT Val(158)met genotype and striatal D(2", 3)receptor binding in adults with 22q11 deletion syndrome, 2011, pp.65, 967~970
  13. Boot E, "Disrupted dopaminergic neurotransmission in 22q11 deletion syndrome", Neuropsychopharmacology, 33, pp.1252~1258 (2008)
  14. Bearden CE, "Effects of COMT genotype on behavioral symptomatology in the 22q11.2 deletion syndrome. 2 Deletion Syndrome", Child Neuropsychol, 11, pp.109~117 (2005)
  15. Huang E, "Catechol-O-methyltransferase Val158Met polymorphism and clinical response to antipsychotic treatment in schizophrenia and schizo-affective disorder patients:a meta-analysis", Int J Neuropsychopharmacol, 19, pp.pyv132~ (2016)
  16. Zivković M, "The association study of polymorphisms in DAT, DRD2, and COMT genes and acute extrapyramidal adverse effects in male schizophrenic patients treated with haloperidol", J Clin Psychopharmacol, 33, pp.593~599 (2013)
  17. Shirakawa T, "Neuronal expression of catechol O-methyltransferase mRNA in neonatal rat suprachiasmatic nucleus", Neuroreport, 15, pp.1239~1243 (2004)
  18. Armbruster D, "Children under stress-COMT genotype and stressful life events predict cortisol increase in an acute social stress paradigm", Int J Neuropsychopharmacol, 15, pp.1229~1239 (2012)
  19. So Yeon Kim, "Limbic Encephalitis Manifesting as Selective Amnesia and Seizure-like Activity: A Case Report", Clinical Psychopharmacology and Neuroscience, 16(1), pp.109~113 (2018), 대한정신약물학회[DOI]
  20. Hande Gurbuz Aytuluk, "Can Propofol Lead to an Increase in Seizure Threshold Over the Course of Electroconvulsive Therapy?", Clinical Psychopharmacology and Neuroscience, 17(4), pp.523~530 (2019), 대한정신약물학회[DOI]

관련 논문AI추천

이 간행물의 다른 논문 (14건)