Abe Yuichi, Sakai Tetsuro, Okumura Akihisa, Akaboshi Shinjiro, Fukuda Mitsumasa, Haginoya Kazuhiro, Hamano Shin-Ichiro, Hirano Kouichi, Kikuchi Kenjiro, Kubota Masaya, Lee Sooyoung, Maegaki Yoshihiro, Sanefuji Masafumi, Shimozato Sachiko, Suzuki Motomasa, Suzuki Yasuhiro, Takahashi Mitsugi, Watanabe Kenji, Mizuguchi Masashi, Yamanouchi Hideo
Department of Pediatrics, Saitama Medical University, Japan.
Department of Pediatrics, Saitama Medical University, Japan.
Brain Dev. 2016 Aug;38(7):638-47. doi: 10.1016/j.braindev.2016.01.007. Epub 2016 Feb 15.
This study aimed to clarify the characteristics of acute encephalopathic episodes in patients with congenital adrenal hyperplasia (CAH), which we termed "CAH-associated encephalopathy (CAHE)."
This retrospective study was conducted using a questionnaire as a nationwide survey of patients with CAH with acute encephalopathy and related episodes.
Fifteen patients were recruited on the bases of clinical data that supported a diagnosis of CAHE. Fourteen patients displayed seizures at onset, and 12 patients exhibited refractory seizures. Deep coma lasting >24h was noted in 12 patients. Neuroimaging studies revealed some heterogeneous features. Diffuse or focal edematous lesions in the cerebrum, which produce high signal intensity on diffusion-weighted magnetic resonance imaging or low density on computer tomography, were found in the acute period in all 15 patients. In the chronic period, 14 patients survived, 11 of whom had some degree of neurological sequelae. Moreover, various degrees of cerebral shrinkage were observed in 11 of 14 surviving patients. Surprisingly, there were no abnormal neuroimaging findings in the basal ganglia, brainstem, and cerebellum in any patient.
Our results indicated that patients with CAH have a risk of developing CAHE, and thus, they should be followed closely because not only status epilepticus or deep coma but also minor symptoms, such as fever and nausea, may lead to CAHE. Because CAHE may feature some heterogeneous encephalopathic episodes, further validation is needed to clarify its etiology.
本研究旨在阐明先天性肾上腺皮质增生症（CAH）患者急性脑病发作的特征，我们将其称为“CAH相关性脑病（CAHE）”。
本回顾性研究通过问卷调查对患有急性脑病及相关发作的CAH患者进行全国范围的调查。
根据支持CAHE诊断的临床数据招募了15名患者。14名患者起病时出现癫痫发作，12名患者出现难治性癫痫发作。12名患者出现持续超过24小时的深度昏迷。神经影像学研究显示出一些异质性特征。在急性期，所有15名患者均发现大脑弥漫性或局灶性水肿性病变，在扩散加权磁共振成像上产生高信号强度或在计算机断层扫描上呈低密度。在慢性期，14名患者存活，其中11名有一定程度的神经后遗症。此外，在14名存活患者中的11名观察到不同程度的脑萎缩。令人惊讶的是，任何患者的基底神经节、脑干和小脑中均未发现异常神经影像学表现。
我们的结果表明，CAH患者有发生CAHE的风险，因此，应密切随访，因为不仅癫痫持续状态或深度昏迷，而且发热和恶心等轻微症状都可能导致CAHE。由于CAHE可能具有一些异质性脑病发作特征，需要进一步验证以阐明其病因。
