Tsai Pei-Lin, Lian Li-Ming, Chen Wei-Hung
Department of Neurology, Shin Kong Wu Ho-Su Memorial Hospital, Taipei, Taiwan.
Acta Neurol Taiwan. 2009 Dec;18(4):272-5.
The chromosome 22q11 deletion syndrome, which is synonymous with DiGeorge syndrome, is a congenital anomaly characterized by abnormal facies, congenital heart defects, hypoparathyroidism with hypocalcemia, and immunodeficiency. Neurological manifestations of the chromosome 22q11 deletion syndrome are variable, and include mental deficiency, speech disturbances, learning difficulties, attention deficit hyperactivity disorder, and epilepsy. Hypoparathyroidism and hypocalcemia cause recurrent seizures if patients are not properly treated. We present two patients with poorly controlled epileptic seizures that turned out to be caused by DiGeorge syndrome with hypocalcemia. For such patients, the definitive treatment of seizures depends on recognition of this syndrome and correction of the hypocalcemic state, rather than the use of anticonvulsants.
22q11染色体缺失综合征，即与迪格奥尔格综合征同义，是一种先天性异常，其特征为面容异常、先天性心脏缺陷、甲状旁腺功能减退伴低钙血症以及免疫缺陷。22q11染色体缺失综合征的神经学表现各异，包括智力缺陷、语言障碍、学习困难、注意力缺陷多动障碍和癫痫。如果患者未得到妥善治疗，甲状旁腺功能减退和低钙血症会导致反复发作的癫痫。我们报告了两名癫痫发作控制不佳的患者，结果发现是由伴有低钙血症的迪格奥尔格综合征引起的。对于此类患者，癫痫的确定性治疗取决于对该综合征的识别以及低钙血症状态的纠正，而非使用抗惊厥药物。
