摘要
患儿为学龄前女童，主因“抽搐、意识障碍伴发热2d”首次住院，诊断为“急性播散性脑脊髓炎（ADEM）”。予免疫治疗后症状恢复，头颅影像学表现有所好转，激素减量过程中头颅磁共振成像示病变加重，随后出现神经系统症状。患儿曾有一过性血常规三系降低，再次应用激素治疗病情好转，但颅内病变仍呈现进行性加重。患儿中枢神经系统脱髓鞘原因不明，在其同胞弟弟以“发热、肝脾大、三系降低”起病后，考虑“家族性噬血细胞综合征（FHPS）”，经病情分析及基因检查最终本患儿明确诊断“以中枢神经系统起病的FHPS”。提示不明原因中枢神经系统脱髓鞘病变，无论是否存在血液系统异常，均应注意考虑噬血细胞综合征的可能性，明确诊断后积极免疫治疗，并尽快行干细胞移植以改善预后。
The child was a preschool girl who was admitted for the first time due to ＂convulsions, disturbance of consciousness and fever for 2 days＂. The girl was diagnosed as acute disseminated encephalomyelitis（ADEM）. After immunotherapy,the girl recovered. During the course of hormone redaction, the cranial magnetic resonance imaging showed aggravated, and neurological symptoms were followed. There was a transient decrease of blood cells. After repeat hormone treatment, the girl was improved again, but the intracranial lesions still showed progressive aggravation tenden- cy. The course of central nervous system demyelinating in this patient was unknown. When her younger sibling prestentd fever, hepatosplenomegaly, blood cell decreased and was diagnosed with familial haemophagocytosis syndrome（ FHPS）, through case discussion and gene testing,the gird was finally diagnosis ＂ central nervous system involvement at the onset of FHPS＂. The case suggests unexplained central nervous system demyelinating lesions ,regardless of whether there are abnormalities of blood system, should pay attention to haemophagocytosis syndrome. Positive immunotherapy should be Riven after diagnosis, and stem cell transplantation should be given as soon as possible to improve prognosis.
作者
杨欣英
韩彤立
万万
程华
张蕊
Yang Xinying;Han Tongli;Fang Fang;Cheng Hua;Zhang Rui(Department of Neurology,Beijing Children＇s Hospital Affiliated to Capital Medical University,Beijirrg 100045,China;Image Center,Beijing Children＇s Hospital Affiliated to Capital Medical University,Belting 100045,Chin;Hematology Center,Beifing Children＇s Hospital Affiliated to Capital Medical University,Beijing 100045.China)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2018年第22期1739-1744,共6页
Chinese Journal of Applied Clinical Pediatrics
关键词
中枢神经系统脱髓鞘
急性播散性脑脊髓炎
家族性噬血细胞综合征
Demyelinating disease of central nervous system
Acute disseminated encephalomyelitis
Familialhaemophagocytosis syndrome
