Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
J Neurol Sci. 2011 Jul 15;306(1-2):91-3. doi: 10.1016/j.jns.2011.03.037. Epub 2011 Apr 14.
Acute encephalopathy in childhood is frequently associated with common infections, especially in East Asia. Various types have been identified although many cases remain unclassified. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease presenting impairment of cortisol biosynthesis. We report three CAH children with acute infection-related encephalopathy. They exhibited disturbed consciousness or seizures, which did not improve after glucocorticoid administration, accompanied by clinical and laboratory findings of adrenal insufficiency. Brain MRI disclosed various patterns of white matter lesions, suggesting different types of acute encephalopathy such as clinically mild encephalitis/encephalopathy with a reversible splenial lesion or hemiconvulsion-hemiplegia syndrome. Acute encephalopathy should be considered and brain MRI immediately performed when impairment of consciousness does not improve after intravenous glucocorticoid administration in CAH patients. Further research is required to elucidate the epidemiology and pathogenic mechanisms of acute encephalopathy in CAH.
儿童急性脑病常与常见感染有关，尤其是在东亚。虽然许多病例仍未分类，但已确定了多种类型。先天性肾上腺增生症（CAH）是一种常染色体隐性疾病，表现为皮质醇生物合成受损。我们报告了 3 例与急性感染相关的 CAH 脑病患儿。他们表现为意识障碍或癫痫发作，糖皮质激素治疗后无改善，并伴有肾上腺功能不全的临床和实验室发现。脑 MRI 显示出各种类型的白质病变，提示存在不同类型的急性脑病，如临床轻度脑炎/脑病伴可逆性胼胝体病变或偏侧抽搐-偏瘫综合征。当 CAH 患者静脉注射糖皮质激素后意识障碍无改善时，应考虑急性脑病，并立即进行脑 MRI。需要进一步研究阐明 CAH 中急性脑病的流行病学和发病机制。
