Jhang Kai-Ming, Chang Tung-Ming, Chen Ming, Liu Chin-San
Department of Neurology, Changhua Christian Hospital, 135 Nanhsiao Street, 500 Changhua, Taiwan.
J Med Case Rep. 2014 Apr 2;8:109. doi: 10.1186/1752-1947-8-109.
Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly.
A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic-clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome.
There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies.
关于特纳综合征患者癫痫病例的报道较为罕见，且大多数患者伴有皮质发育畸形。我们报告一例台湾患者，患有嵌合型特纳综合征，表现为全身性强直阵挛性癫痫和侧脑室不对称，但无明显皮质异常。
一名49岁无家族病史的台湾女性，自11岁起出现不频繁的全身性强直阵挛性癫痫。检查发现，她身材矮小、颈部蹼状、手脚肿胀、下颌后缩面容以及轻度智力障碍。她有自然月经初潮且月经规律。脑部磁共振成像显示侧脑室不对称以及弥漫性皮质下白质T2加权高信号。染色体研究显示低非整倍体（10%）的45,X/46,XX/47,XXX嵌合型特纳综合征。
越来越多的证据表明癫痫可能是特纳综合征的一种罕见表现。47,XXX嵌合型特纳综合征可能增加癫痫风险，但需要更多研究才能得出结论。该病例也强化了我们的认识，即特纳综合征可能是侧脑室不对称的病理基础之一。当患者患有特发性/隐源性癫痫或脑部影像显示侧脑室不对称时，轻微特纳表型的存在值得进一步进行染色体研究。
