Everman D B, Stoudemire A
Medical Psychiatry Unit, Emory University Hospital, Atlanta, GA.
Psychosomatics. 1994 Jan-Feb;35(1):35-40. doi: 10.1016/S0033-3182(94)71805-3.
A patient with bipolar disorder and previously undiagnosed Klinefelter's syndrome presented with acute mania refractory to pharmacotherapy and was successfully treated with electroconvulsive therapy. This case constitutes the 31st case report documenting the coexistence of bipolar disorder with chromosomal anomalies and the 14th such patient with Klinefelter's syndrome. The relevance of this case to understanding the genetics of bipolar disorder is explored through a review of previously published reports of bipolar patients with chromosomal abnormalities. The relatively high incidence of Klinefelter's syndrome among this group of patients is discussed in the context of evidence for linkage of bipolar illness to the X chromosome.
一名患有双相情感障碍且此前未被诊断出患有克兰费尔特综合征的患者出现了对药物治疗难治的急性躁狂发作，并通过电休克疗法成功治愈。该病例是记录双相情感障碍与染色体异常共存的第31例病例报告，也是第14例患有克兰费尔特综合征的此类患者。通过回顾此前发表的关于患有染色体异常的双相情感障碍患者的报告，探讨了该病例对于理解双相情感障碍遗传学的相关性。在双相情感障碍与X染色体连锁证据的背景下，讨论了该组患者中克兰费尔特综合征相对较高的发病率。
