Department of Neuropediatrics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Member of the Clinical Group linked (GCV14/ER/6) to the Networked Biomedical Research Centre for Rare Diseases (CIBERER), Carlos III Health Institute, Madrid, Spain.
Department of Neuropediatrics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Seizure. 2020 Dec;83:139-142. doi: 10.1016/j.seizure.2020.10.008. Epub 2020 Oct 12.
Rasmussen's encephalitis (RE) is a chronic neurological disorder characterized by inflammation of the cerebral cortex, mainly unilateral, that leads to drug-resistant epilepsy and progressive neurological impairment. Central Precocious Puberty (CPP) is uncommon, albeit increased in frequency in patients with neurological conditions and the physiopathological bases of these associations remains unclear in most cases. Epilepsy has been proposed to play a role, as well as the accumulation of substances produced as a result of metabolism or tissue degeneration in some neurodegenerative diseases. However, CPP has not been previously described in patients with RE.
From a series of patients affected by RE followed-up at a referral center, an in-depth review of the characteristics of those who developed CCP was carried out.
Three cases were identified, representing a relative frequency of 21.4 % for CPP. They were girls, of Caucasian ethnicity, without family history of CPP or any image-identified abnormalities in the hypothalamic area. In two cases CPP manifested immediately before the onset of the epilepsy (prior to the diagnosis of RE) and in the other, after epilepsy onset but coinciding with a worsening of the seizures. A GnRH test with pubertal response confirmed CPP in the three cases.
The high proportion of CPP in patients affected by RE suggested a plausible relationship between these two entities. Various factors involved, including neuroinflammation, are hypothesized in the present study. However, further studies are needed to elucidate the pathophysiological bases, which could provide insight in the understanding of both entities.
拉森氏脑炎（RE）是一种慢性神经系统疾病，其特征为大脑皮层炎症，主要为单侧性，导致耐药性癫痫和进行性神经功能障碍。中枢性性早熟（CPP）虽然不常见，但在神经系统疾病患者中频率增加，这些关联的病理生理基础在大多数情况下仍不清楚。癫痫被认为起作用，以及一些神经退行性疾病中由于代谢或组织退化而产生的物质积累也起作用。然而，此前在 RE 患者中并未描述过 CPP。
从在一个转诊中心接受 RE 治疗的一系列患者中，对发生 CPP 的患者的特征进行了深入回顾。
确定了 3 例，占 CPP 的相对频率为 21.4%。这 3 例均为女孩，白种人，无 CPP 家族史或下丘脑区域的任何影像学异常。在 2 例中，CPP 在癫痫发作之前（在 RE 诊断之前）出现，而在另 1 例中，CPP 在癫痫发作后出现，但与癫痫发作恶化同时出现。促性腺激素释放激素试验显示青春期反应，证实了这 3 例 CPP。
受 RE 影响的患者中 CPP 的高比例表明这两种疾病之间可能存在关联。本研究假设了各种涉及的因素，包括神经炎症。然而，需要进一步研究来阐明病理生理基础，这可能有助于理解这两种疾病。
