Badihian Shervin, Bahrani Saeideh, Tabrizi Nasim, Moein Houshang, Zare Mohammad, Barekatain Majid, Basiratnia Reza, Rahimian Elham, Mehvari Habibabadi Amirali, Moein Payam, Mehvari Habibabadi Jafar
Isfahan Neurosciences Research Center, Department of Neurology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Department of Neurology, Mazandaran University of Medical Sciences, Mazandaran, Iran.
Case Rep Med. 2017;2017:2432315. doi: 10.1155/2017/2432315. Epub 2017 Jan 26.
. Hypothalamic hamartomas (HHs) are rare tumor-like malformations that may present with complex partial seizures refractory to anticonvulsants in adulthood. The condition may be misdiagnosed because of rarity. . We report a 25-year-old man with complaint of seizures presented by falling, tonic spasm of limbs, oral automatism, vocalization, and hypermotor activities. His seizures started at the age of one month and presented as eye deviation and upper limbs myoclonic jerk, followed by frequent seizures with variable frequency. The patient had delayed developmental milestones and was mentally retarded. He was hospitalized and underwent video-EEG monitoring and neuroimaging, and the diagnosis of HH was made. The patient became candidate for surgery after that. . In this case, the underlying etiology of seizures was diagnosed after 25 years. HH is a rare condition and neurologists may encounter very small number of these cases during their practice. Therefore, they should consider it in patients who present with suspected signs and symptoms.
下丘脑错构瘤(HHs)是一种罕见的肿瘤样畸形,在成年期可能表现为对抗惊厥药难治的复杂部分性癫痫发作。由于其罕见性,这种疾病可能会被误诊。我们报告一名25岁男性,主诉有跌倒发作、肢体强直性痉挛、口部自动症、发声及多动等癫痫症状。他的癫痫发作始于1个月大时,表现为眼球偏斜和上肢肌阵挛性抽搐,随后发作频率不一且频繁发作。该患者发育里程碑延迟且智力发育迟缓。他住院并接受了视频脑电图监测和神经影像学检查,最终确诊为HH。此后该患者成为手术候选对象。在这个病例中,癫痫的潜在病因在25年后才得以诊断。HH是一种罕见疾病,神经科医生在其临床实践中可能仅会遇到极少数此类病例。因此,对于出现可疑症状和体征的患者,他们应考虑到这种疾病。