Cavanna Andrea E, Paini Giulia, Purpura Giulia, Riva Anna, Nacinovich Renata, Seri Stefano
Department of Neuropsychiatry, BSMHFT and University of Birmingham, Birmingham, UK.
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK.
Neurol Sci. 2024 Aug;45(8):4033-4035. doi: 10.1007/s10072-024-07573-x. Epub 2024 May 7.
Klinefelter syndrome (47, XXY) is the most common sex chromosome aneuploidy. In addition to male hypergonadotropic hypogonadism, a wide range of neurodevelopmental disorders, anxiety and affective symptoms have been reported in a substantial proportion of cases.
We document the rare case of a 43-year-old man diagnosed with Klinefelter syndrome and co-morbid Gilles de la Tourette syndrome. He presented with multiple motor and vocal tics since adolescence, as well as anxiety and affective symptoms as his main tic-exacerbating factors. Tic severity was rated as marked (Yale Global Tic Severity Scale score of 78/100), and recommendations for the treatment of both tics and psychiatric co-morbidities were formulated.
Neurodevelopmental tics in the context of Klinefelter syndrome have been previously documented in three cases only. Gilles de la Tourette syndrome is 3-4 times more common in males than females and its etiological factors include multiple genetic components (genetic heterogeneity). Our case report widens the spectrum of neurodevelopmental disorders observed in the context of Klinefelter syndrome and contributes to genetic research on the role of the X chromosome in the pathophysiology of tic disorders.
克兰费尔特综合征（47, XXY）是最常见的性染色体非整倍体疾病。除了男性高促性腺激素性性腺功能减退外，相当一部分病例还报告了广泛的神经发育障碍、焦虑和情感症状。
我们记录了一例罕见病例，一名43岁男性被诊断为克兰费尔特综合征并合并抽动秽语综合征。他自青少年期起就出现多种运动性和发声性抽动，同时伴有焦虑和情感症状，这些是其抽动加重的主要因素。抽动严重程度被评为重度（耶鲁全球抽动严重程度量表评分为78/100），并制定了针对抽动及精神共病的治疗建议。
此前仅在三例病例中记录过克兰费尔特综合征患者出现神经发育性抽动。抽动秽语综合征在男性中的发病率比女性高3至4倍，其病因包括多种遗传因素（遗传异质性）。我们的病例报告拓宽了在克兰费尔特综合征背景下观察到的神经发育障碍谱，有助于开展关于X染色体在抽动障碍病理生理学中作用的遗传学研究。
