医学
白细胞
糖皮质激素
疾病
血沉
儿科
癫痫
突变
内科学
基因
免疫学
生物
遗传学
精神科
作者
Qiurong Chen,Zhenjie Zhang,Yixiu Lu,Sun-Bi-Xin Yuan,Ji Li
出处
期刊:PubMed
日期:2023-12-15
卷期号:25 (12): 1276-1281
标识
DOI:10.7499/j.issn.1008-8830.2307114
摘要
A boy, aged 6 years, attended the hospital due to global developmental delay for 6 years and recurrent fever and convulsions for 5 years. The boy was found to have delayed mental and motor development at the age of 3 months and experienced recurrent fever and convulsions since the age of 1 year, with intermittent canker sores and purulent tonsillitis. During the fever period, blood tests showed elevated white blood cell count, C-reactive protein, and erythrocyte sedimentation rate, which returned to normal after the fever subsides. Electroencephalography showed epilepsy, and genetic testing showed compound heterozygous mutations in the
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