Junik Roman, Kosowicz Jerzy
Department of Endocrinology and Diabetology; Collegium Medicum, Nicolaus Copernicus University; Bydgoszcz, Poland.
Neuro Endocrinol Lett. 2005 Oct;26(5):593-8.
In patients with Klinefelter syndrome dissocial behaviour, learning difficulties and low intelligence are common. Thus, the aim of our study was to perform brain perfusion studies and cranial cephalometry in 27 cases of Klinefelter syndrome and compare the results with those in a group of 26 healthy subjects.
Single photon emission tomography (SPECT) was performed after injection of 20 mCi 99mTc-HMPAO and the data from transaxial slices were analyzed for 46 regions of interest in the cerebellar, thalamic, ventricular and parietal planes. Right/ left ratios were calculated and differences above 10 per cent were considered abnormal. Skull radiographs in frontal and lateral view were taken and measurements of the cerebral part were made.
SPECT imaging in 27 Klinefelter patients revealed 82 hypoperfusion foci, most frequently in temporal regions, less frequently in temporoparietal and frontal regions, whereas only 11 hypoperfusion foci in 6 of the 26 control subjects were found. Skull radiography revealed the following abnormalities : flattening of the temporal regions, reduced width of the vault, shortening of the anterior cranial fossa and definitely reduced angle of the cranial base; all these anomalies differed significantly from those in the skulls of the control subjects.
The high coincidence of the location on the temporal regions of brain perfusion defects and the neurocranial shape anomalies indicate that an extra X chromosome in Klinefelter patients has detrimental effects on the temporal lobe development and function.
克氏综合征患者常出现社交紊乱行为、学习困难和智力低下。因此，本研究旨在对27例克氏综合征患者进行脑灌注研究和头颅测量，并将结果与26名健康受试者进行比较。
注射20mCi 99mTc-HMPAO后进行单光子发射断层扫描（SPECT），并对小脑、丘脑、脑室和顶叶平面的46个感兴趣区域的经轴位切片数据进行分析。计算左右比值，超过10%的差异被视为异常。拍摄头颅正位和侧位X线片，并对脑部进行测量。
27例克氏综合征患者的SPECT成像显示82个灌注减低灶，最常见于颞叶区域，较少见于颞顶叶和额叶区域，而26名对照受试者中仅6人发现11个灌注减低灶。头颅X线摄影显示以下异常：颞叶区域变平、颅顶宽度减小、前颅窝缩短以及颅底角度明显减小；所有这些异常与对照受试者颅骨的异常有显著差异。
脑灌注缺损部位与神经颅骨形态异常在颞叶区域高度吻合，表明克氏综合征患者额外的X染色体对颞叶发育和功能有有害影响。
