Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy.

Yuichi Abe,Tetsuro Sakai,Akihisa Okumura,Shinjiro Akaboshi,Mitsumasa Fukuda,Kazuhiro Haginoya,Shin-Ichiro Hamano, Kouichi Hirano,Kenjiro Kikuchi,Masaya Kubota,Sooyoung Lee,Yoshihiro Maegaki,Masafumi Sanefuji,Sachiko Shimozato,Motomasa Suzuki,Yasuhiro Suzuki,Mitsugi Takahashi,Kenji Watanabe,Masashi Mizuguchi,Hideo Yamanouchi

Brain and Development（2016）

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摘要

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.

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关键词

Congenital adrenal hyperplasia,Congenital adrenal hyperplasia-associated encephalopathy,Acute encephalopathy,Acute encephalopathy with biphasic seizures and late reduced diffusion,Acute encephalopathy with febrile convulsive status epilepticus,Hemiconvulsion-hemiplegia-epilepsy syndrome,Clinically mild encephalopathy/encephalitis with reversible splenial lesion type 2

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