Yuichi Abe1, Tetsuro Sakai2, Akihisa Okumura3, Shinjiro Akaboshi4, Mitsumasa Fukuda5, Kazuhiro Haginoya6, Shin-Ichiro Hamano7, Kouichi Hirano8, Kenjiro Kikuchi9, Masaya Kubota10, Sooyoung Lee11, Yoshihiro Maegaki12, Masafumi Sanefuji13, Sachiko Shimozato14, Motomasa Suzuki15, Yasuhiro Suzuki16, Mitsugi Takahashi17, Kenji Watanabe18, Masashi Mizuguchi19, Hideo Yamanouchi2. 1. Department of Pediatrics, Saitama Medical University, Japan. Electronic address: abeyped@saitama-med.ac.jp. 2. Department of Pediatrics, Saitama Medical University, Japan. 3. Department of Pediatrics, Aichi Medical University, Japan. 4. Department of Pediatrics, National Hospital Organization, Tottori Medical Center, Japan. 5. Department of Pediatrics, Graduate School of Medicine, Ehime University, Japan. 6. Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Japan. 7. Division of Neurology, Saitama Children's Medical Center, Japan. 8. Department of Pediatric Neurology, Hamamatsu City Welfare and Medical Center for Development, Japan. 9. Department of Pediatrics, Jikei University School of Medicine, Japan. 10. Division of Neurology, National Center for Child Health and Development, Japan. 11. Fukuoka Children's Hospital, Department of Critical care Medicine, Japan. 12. Division of Child Neurology, Faculty of Medicine, Tottori University, Japan. 13. Department of Pediatrics, Graduate school of Medical Sciences, Kyusyu University, Japan. 14. Department of Pediatrics, Eiju General Hospital, Japan. 15. Department of Pediatric Neurology, Aichi Children's Health and Medical Center, Japan. 16. Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Japan. 17. Takahashi Children's Clinic, Japan. 18. Department of Pediatrics, Kagoshima City Hospital, Japan. 19. Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Japan.
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. 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.
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. 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.
Authors: M Basa; R Vukovic; A Sarajlija; T Milenkovic; M Djordjevic; B Vucetic; J Martic Journal: Acta Endocrinol (Buchar) Date: 2021 Jul-Sep Impact factor: 0.877
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