Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy

• Published in: Brain & development (Tokyo. 1979) 2016-08, Vol.38 (7), p.638-647
• Main Authors: 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
• Format: Article
• Language: English
• Subjects: Acute encephalopathy; Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute encephalopathy with febrile convulsive status epilepticus; Adrenal Hyperplasia, Congenital - diagnostic imaging; Adrenal Hyperplasia, Congenital - epidemiology; Adrenal Hyperplasia, Congenital - physiopathology; Brain - diagnostic imaging; Brain - physiopathology; Brain Diseases - diagnostic imaging; Brain Diseases - epidemiology; Brain Diseases - physiopathology; Child; Child, Preschool; Clinically mild encephalopathy/encephalitis with reversible splenial lesion type 2; Congenital adrenal hyperplasia; Congenital adrenal hyperplasia-associated encephalopathy; Diffusion Magnetic Resonance Imaging; Electroencephalography; Female; Hemiconvulsion-hemiplegia-epilepsy syndrome; Humans; Infant; Japan - epidemiology; Male; Neurology; Retrospective Studies; Syndrome; Tomography, X-Ray Computed
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/j.braindev.2016.01.007

Abstract Background 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).” Methods This retrospective study was conducted using a questionnaire as a nationwide survey of patients with CAH with acute encephalopathy and related episodes. Results 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 >24 h 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. Conclusion 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.