Han Wenjie, Jiang Che, Qi Zijuan, Xiang Wei, Lin Jian, Zhou Youtian, Li Zhensheng, Deng Bingmei
Department of Neurology, General Hospital of Southern Theater Command, Guangzhou, 510010, China.
Acta Epileptol. 2023 Apr 28;5(1):11. doi: 10.1186/s42494-023-00120-9.
Hypothalamic hamartoma (HH) is a congenital non-progressive lesion of hypothalamus during fetal development. Mass-like lesions in different anatomical locations often develop a variously disabling course presenting with cognitive decline, psychiatric symptoms, as well as multiple seizure types. As a rare disease, HH is relatively common in infants and children, but it is extremely rare in adults.
We reported a case of adult-onset hypothalamic hamartoma, and summarized and analyzed relevant reports and studies of HH worldwide. The patient had clinical manifestations characterized by multiple seizure forms. After stereotactic radiofrequency thermocoagulation and drug treatment, the condition was effectively controlled. The patient was followed up till October 2022, with no recurrence of seizures.
Epilepsy caused by HH can resemble that of temporal lobe seizures, as HH forms a complex epileptogenic network with other regions of the brain through anatomical and functional connections. Early treatment of HH can provide better control of the symptoms of epilepsy, and patients with longer disease courses may have more complications.
下丘脑错构瘤（HH）是胎儿发育过程中下丘脑的一种先天性非进行性病变。不同解剖位置的肿块样病变通常会发展为具有不同致残过程的疾病，表现为认知功能下降、精神症状以及多种癫痫发作类型。作为一种罕见病，HH在婴幼儿中相对常见，但在成人中极为罕见。
我们报告了一例成人起病的下丘脑错构瘤病例，并对全球范围内HH的相关报告和研究进行了总结分析。该患者具有以多种发作形式为特征的临床表现。经过立体定向射频热凝治疗和药物治疗后，病情得到有效控制。对该患者随访至2022年10月，癫痫未复发。
HH所致癫痫可类似于颞叶癫痫，因为HH通过解剖和功能连接与大脑其他区域形成复杂的致痫网络。HH的早期治疗可更好地控制癫痫症状，病程较长的患者可能会有更多并发症。
