Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga 524-0022, Japan.
Pediatr Neurol. 2010 Jan;42(1):61-4. doi: 10.1016/j.pediatrneurol.2009.08.004.
Trisomy 18 is frequently associated with neurologic abnormalities, including hypotonia in infancy, mental retardation, central apnea, and epilepsy. Although central apnea and epilepsy are common complications in children with trisomy 18, epileptic apnea in these children was not previously reported. We describe an infant with trisomy 18 who developed epileptic apnea. Her apneic episodes began at age 10 months, occurring in clusters over several days each month. According to ictal electroencephalogram, interictal [(11)C] flumazenil-positron emission tomography, and [(18)F] fluorodeoxyglucose-positron emission tomography, the apneic episodes represented complex partial seizures (autonomic seizures), probably originating in the left frontotemporal area, probably related to cortical microdysgenesis. The condition was successfully treated with zonisamide. In infants with trisomy 18, differentiation of epileptic apnea from central apnea is crucial, because medications used to treat central apnea, including caffeine and theophylline, can be harmful to children with epileptic apnea.
18 三体综合征常伴有神经异常,包括婴儿期的张力减退、智力障碍、中枢性呼吸暂停和癫痫。虽然中枢性呼吸暂停和癫痫是 18 三体综合征患儿的常见并发症,但这些患儿的癫痫性呼吸暂停此前尚未报道。我们描述了一例患有 18 三体综合征的婴儿,她出现了癫痫性呼吸暂停。她的呼吸暂停发作始于 10 个月大,每月持续数天发作数次。根据发作期脑电图、发作间期[(11)C]氟马西尼正电子发射断层扫描和[(18)F]氟脱氧葡萄糖正电子发射断层扫描,这些呼吸暂停发作代表复杂部分性发作(自主发作),可能起源于左额颞区,可能与皮质微发育不良有关。该患儿使用唑尼沙胺治疗后病情得到控制。对于患有 18 三体综合征的婴儿,区分癫痫性呼吸暂停和中枢性呼吸暂停至关重要,因为用于治疗中枢性呼吸暂停的药物,包括咖啡因和茶碱,对患有癫痫性呼吸暂停的婴儿可能有害。