title: Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy.
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 >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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, Saitama Medical University, Japan. Electronic address: abeyped@saitama-med.ac.jp.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Abe
authors.affiliation: Department of Pediatrics, Saitama Medical University, Japan.
authors.forename: Tetsuro
authors.initials: T
authors.lastname: Sakai
authors.affiliation: Department of Pediatrics, Aichi Medical University, Japan.
authors.forename: Akihisa
authors.initials: A
authors.lastname: Okumura
authors.affiliation: Department of Pediatrics, National Hospital Organization, Tottori Medical Center, Japan.
authors.forename: Shinjiro
authors.initials: S
authors.lastname: Akaboshi
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Ehime University, Japan.
authors.forename: Mitsumasa
authors.initials: M
authors.lastname: Fukuda
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Haginoya
authors.affiliation: Division of Neurology, Saitama Children's Medical Center, Japan.
authors.forename: Shin-Ichiro
authors.initials: S
authors.lastname: Hamano
authors.affiliation: Department of Pediatric Neurology, Hamamatsu City Welfare and Medical Center for Development, Japan.
authors.forename: Kouichi
authors.initials: K
authors.lastname: Hirano
authors.affiliation: Department of Pediatrics, Jikei University School of Medicine, Japan.
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kikuchi
authors.affiliation: Division of Neurology, National Center for Child Health and Development, Japan.
authors.forename: Masaya
authors.initials: M
authors.lastname: Kubota
authors.affiliation: Fukuoka Children's Hospital, Department of Critical care Medicine, Japan.
authors.forename: Sooyoung
authors.initials: S
authors.lastname: Lee
authors.affiliation: Division of Child Neurology, Faculty of Medicine, Tottori University, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Maegaki
authors.affiliation: Department of Pediatrics, Graduate school of Medical Sciences, Kyusyu University, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Sanefuji
authors.affiliation: Department of Pediatrics, Eiju General Hospital, Japan.
authors.forename: Sachiko
authors.initials: S
authors.lastname: Shimozato
authors.affiliation: Department of Pediatric Neurology, Aichi Children's Health and Medical Center, Japan.
authors.forename: Motomasa
authors.initials: M
authors.lastname: Suzuki
authors.affiliation: Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Suzuki
authors.affiliation: Takahashi Children's Clinic, Japan.
authors.forename: Mitsugi
authors.initials: M
authors.lastname: Takahashi
authors.affiliation: Department of Pediatrics, Kagoshima City Hospital, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Watanabe
authors.affiliation: Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Mizuguchi
authors.affiliation: Department of Pediatrics, Saitama Medical University, Japan.
authors.forename: Hideo
authors.initials: H
authors.lastname: Yamanouchi
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000000981:diagnostic imaging* / Q000453:epidemiology* / Q000503:physiopathology; D001921:Brain / Q000000981:diagnostic imaging* / Q000503:physiopathology; D001927:Brain Diseases / Q000000981:diagnostic imaging* / Q000453:epidemiology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D038524:Diffusion Magnetic Resonance Imaging; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D007564:Japan / Q000453:epidemiology; D008297:Male; D012189:Retrospective Studies; D013577:Syndrome; D014057:Tomography, X-Ray Computed
keywords: Acute encephalopathy; Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute encephalopathy with febrile convulsive status epilepticus; Clinically mild encephalopathy/encephalitis with reversible splenial lesion type 2; Congenital adrenal hyperplasia; Congenital adrenal hyperplasia-associated encephalopathy; Hemiconvulsion-hemiplegia-epilepsy syndrome