Neurological Abnormality Could be the First and Only Symptom of Familial Hemophagocytic Lymphohistiocytosis: Report of Two Families  

作　　者：Yun-Ze Zhao Hua Cheng Chang-Hong Ding Hong-Hao Ma Tong-Li Han Jiu-Wei Li Dong Wang Zhi-Gang Li Tian-You Wang Rui Zhang 

机构地区：[1]Beijing Key Laboratory of Pediatric Hematology Oncology,National Key Discipline of Pediatrics (Capital Medical University),Key Laboratory of Major Diseases in Children,Ministry of Education,Hematology Oncology Center,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health, Beijing 100045,China [2]Department of Radiology,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China [3]Department of Neurology,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China

出　　处：《Chinese Medical Journal》2018年第24期3004-3006,共3页中华医学杂志（英文版）

基　　金：the grants from the National Science and Technology Key Projects (No.2017ZX09304029004);Beijing Municipal Science and Technology Commission (No.Z 171100001017050);National Natural Science Foundation of China (No.81700186,81800189);Scientific Research Common Program of Beijing Municipal Commission of Education (No.KM201710025019);Talent Training Proj ect-Fostering Fund of National Natural Science Foundation of Beijing Children's Hospital,Capital Medical University (No.GPY201713);The Special Fund of The Pediatric Medical Coordinated Development Center of Beijing Municipal Administration (XTZD20180202).

摘　　要：To the Editor:Hemophagocytic lymphohistiocytosis (HLH)is a life-threatening disease which impacts many parts of the body including the digestive,circulatory,and respiratory systems.The central nervous system (CNS)can also be affected,particularly in patients with familial HLH-2 (FHL-2),responsible for approximately 20% of all FHL.FHL-2 is a result of mutations to the perforin 1 (PRF1)gene,which can occur at numerous sites on the gene.

关 键 词：NEUROLOGICAL ABNORMALITY SYMPTOM of FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 

分 类 号：R[医药卫生]