Yildiz Celik Senay, Bebek Nerses, Gurses Candan, Baykan Betul, Gokyigit Aysen
Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Epilepsy Behav. 2018 May;82:46-51. doi: 10.1016/j.yebeh.2018.02.024. Epub 2018 Mar 24.
Phenylketonuria (PKU) is the most common form of amino acid metabolism disorders with autosomal recessive inheritance. The brain damage can be prevented by early diagnosis and a phenylalanine-restricted diet. Untreated or late-treated patients may show mental retardation and other cognitive dysfunctions, as well as motor disability and/or epilepsy.
Three patients with PKU and epilepsy were recognized to have reflex epileptic features, and there were ten consecutive adult patients with PKU and epilepsy who were evaluated retrospectively. Medical history, ages at diagnosis and therapy onset, age at seizure onset, seizure types and reflex features, neurological findings, cranial imaging, electroencephalography (EEG) findings, and final clinical condition were evaluated. Reflex epilepsy features were examined in detail.
The cases (6 females, 4 males) were diagnosed at ages between 3.5months and 12years. All patients had various degrees of mental-motor retardation and focal or generalized seizures with age at seizure onset varied between neonatal period and 15years. Three patients had febrile seizure, 3 patients had myoclonia, and 3 patients had status epilepticus. All patients had abnormal EEG findings except one. There was a slowing of background activity, and generalized discharges were observed in 7 patients; 3 of them had asymmetrical discharges. One patient had right hippocampal sclerosis (HS), and another patient had hypointensities in the basal ganglia and corpus callosum. Reflex features were clinically observed in 3 of the patients; however, EEG results did not show any related findings. One patient had reflex seizures triggered by photic stimuli, hot water, and startling; one by photic stimuli; and the other one by startling.
Reports on the clinical and electrophysiological features of adult patients with PKU were scant. We emphasized that reflex clinical features may be observed in this metabolic disease, and focal epileptiform abnormalities and asymmetry may be present in electrophysiological evaluation besides the rare association with HS.
苯丙酮尿症（PKU）是最常见的常染色体隐性遗传的氨基酸代谢紊乱疾病。早期诊断并采用限制苯丙氨酸饮食可预防脑损伤。未经治疗或治疗较晚的患者可能会出现智力发育迟缓及其他认知功能障碍，以及运动障碍和/或癫痫。
识别出3例患有PKU和癫痫的患者具有反射性癫痫特征，并对连续10例成年PKU和癫痫患者进行回顾性评估。评估病史、诊断和治疗开始时的年龄、癫痫发作开始时的年龄、癫痫发作类型和反射特征、神经学检查结果、头颅影像学、脑电图（EEG）结果及最终临床状况。详细检查反射性癫痫特征。
这些病例（6例女性，4例男性）诊断时年龄在3.5个月至12岁之间。所有患者均有不同程度的精神运动发育迟缓，癫痫发作类型为局灶性或全身性，癫痫发作开始时的年龄在新生儿期至15岁之间。3例患者有热性惊厥，3例有肌阵挛，3例有癫痫持续状态。除1例患者外，所有患者的EEG结果均异常。背景活动减慢，7例患者观察到广泛性放电；其中3例有不对称放电。1例患者有右侧海马硬化（HS），另1例患者基底节和胼胝体有低密度影。3例患者临床上观察到反射特征；然而，EEG结果未显示任何相关发现。1例患者的反射性癫痫发作由光刺激、热水和惊吓触发；1例由光刺激触发；另1例由惊吓触发。
关于成年PKU患者临床和电生理特征的报道较少。我们强调，在这种代谢性疾病中可能会观察到反射性临床特征，除了与HS的罕见关联外，电生理评估中可能存在局灶性癫痫样异常和不对称性。
