同胞姐弟同患海蓝组织细胞增生症并文献复习  

CASE REPORT AND DOCUMENT REVIEWS:SEA-BLUE HISTIOCYTOSIS IN FULL SISTER AND BROTHER

作　　者：刘平毅 陈玉云 林兴明 

机构地区：[1]沂水中心医院,山东沂水276400

出　　处：《山东医学高等专科学校学报》2006年第4期263-264,共2页Journal of Shandong Medical College

摘　　要：目的探讨海蓝组织细胞增生症(SBH)的诊断及鉴别诊断。方法对2例SBH患儿进行详细的病史询问、体格及骨髓涂片形态学检查并进行文献复习。结果1例患儿表现为智力减退,语言障碍,走路不稳,吞咽困难,呈进行性神经系统受累表现。2例患儿骨髓象中均存在较多海蓝组织细胞,未见其他特殊细胞。结论SBH多以肝脾肿大、贫血及血小板减少为主要临床表现,可伴有神经系统症状,并呈进行性加重。骨髓细胞学检查发现海蓝组织细胞是诊断SBH的重要依据,临床上需与尼曼-匹克病、肝豆状核变性及神经系统感染等疾病鉴别。Objective To study the diagnosis and differential diagnosis of sea-blue histiocytosis（SBH）. Methods Cytochemistry and light microscopy were adopted in the observation of bone marrow smears obtained form 2 SBH patients who were sister and brother in one family. Illness histories were studied and physical examinations were performed. And at the same time, relevant medical documents were reviewed. Results SBH cells were detected in the bone marrow smears. The senior sister shows serials of clinical symptoms including remission of intelligence, language barrier, dysphagia, and wadding gait, while the junior brother looks normal presently. Con- clusion The presence of SBH cell is pathognomonic marker in diagnosis of SBH and differential diagnosis should be made to distinguish it from Niemann-Pick disease C-type and other nervous diseases.

关 键 词：海蓝组织细胞增生症 骨髓细胞学 诊断 

分 类 号：R589[医药卫生—内分泌]