Arzimanoglou Alexis A, Hirsch Edouard, Aicardi Jean
Epilepsy Unit, Child Neurology and Metabolic Diseases Department, University Hospital Robert Debré, Paris, France.
Epileptic Disord. 2003 Dec;5(4):187-99.
The progresses of neuroimaging have allowed an earlier detection of hypothalamic hamartoma in children presenting with gelastic or dacrystic seizures. Associated symptoms can include other types of seizures, precocious puberty, and behavioral or cognitive deterioration. Combination of all these features is not constant and, when present, their evolution may be variable. When epilepsy proves intractable, surgery may be a solution but is not without risks. Therefore, it can only be justified on the basis of a considerable degree of certainty on the progressive character of the disorder, both in terms of epilepsy and global development. Even though epilepsy is a major and usually the most important problem, it is not always possible to predict its course and to be able to evaluate its potential effects on development. Available data suggests that deterioration is partly related to the epileptogenic activity. We reviewed data from 16 personal cases and discussed the possible evolutions of the epilepsy syndrome on the basis of 6 illustrative cases and a review of the literature. We point out that seizures may start early in life and evolve either towards a catastrophic encephalopathy or may be transiently severe and will progressively settle down. Intermediate situations also exist as well as cases presenting with a mild epilepsy. In almost all cases cognitive difficulties are present and may be associated with behavioral disturbances. They are of variable severity, usually in relation to the severity of the epilepsy and the evolution of the EEG abnormalities. Some of our cases also illustrate that, in young children whose seizures are limited to "a sensation of a pleasant feeling", "a pressure to laugh" or "smiling", early detection of the hamartoma may still be difficult and the epilepsy pattern may be misdiagnosed as an epilepsy temporal or frontal origin. Detailed analysis of the electro-clinical evolution of representative cases highlights the variable expression of the epilepsy syndrome and renders difficult any dogmatic position on early surgery. However, recent data suggests that a surgical solution must be sought early. Prospective studies are needed to evaluate, not only outcome in terms of control the seizures without unacceptable side effects but also on the evolution of the cognitive and behavioral profile of children with HH and epilepsy are needed.
神经影像学的进展使得能够更早地检测出患有痴笑性或哭泣性癫痫的儿童下丘脑错构瘤。相关症状可能包括其他类型的癫痫、性早熟以及行为或认知能力衰退。所有这些特征并非一成不变，即便出现，其发展也可能各不相同。当癫痫难以控制时，手术或许是一种解决办法，但并非毫无风险。因此，只有在对该疾病的进展特性有相当程度的确定性时，手术才是合理的，这在癫痫和整体发育方面均是如此。尽管癫痫是一个主要问题，通常也是最重要的问题，但并非总能预测其病程，也难以评估其对发育的潜在影响。现有数据表明，衰退部分与致痫活动有关。我们回顾了16例个人病例的数据，并基于6例典型病例及文献综述讨论了癫痫综合征可能的发展情况。我们指出，癫痫发作可能在生命早期开始，要么发展为灾难性脑病，要么可能短暂严重，随后逐渐缓解。也存在中间情况以及轻度癫痫病例。几乎在所有病例中都存在认知困难，且可能伴有行为障碍。其严重程度各不相同，通常与癫痫的严重程度以及脑电图异常的发展有关。我们的一些病例还表明，对于那些癫痫发作仅限于“愉悦感”“发笑冲动”或“微笑”的幼儿，早期检测错构瘤可能仍然困难，癫痫模式可能被误诊为颞叶或额叶起源的癫痫。对代表性病例的电临床演变进行详细分析，突出了癫痫综合征的可变表现，使得在早期手术问题上难以采取任何教条主义立场。然而，近期数据表明必须尽早寻求手术解决方案。需要进行前瞻性研究，不仅要评估在无不可接受副作用的情况下控制癫痫发作的结果，还要评估患有下丘脑错构瘤和癫痫的儿童认知和行为特征的发展情况。
