进行性神经系统受累的海蓝组织细胞增生症三例  

Progressive neurological damages in three patients with sea-blue histiocytosis

作　　者：丁昌红[1] 邹丽萍[1] 吴沪生[1] 李菊[2] 朱立春 闫安平 

机构地区：[1]首都医科大学附属北京儿童医院神经内科,100045 [2]首都医科大学附属北京儿童医院血液内科,100045 [3]秦皇岛市妇幼保健院儿科 [4]河南洛阳石化总厂医院儿科

出　　处：《中华儿科杂志》2002年第5期277-279,共3页Chinese Journal of Pediatrics

摘　　要：目的　探讨以慢性进行性神经系统受累为主要表现的海蓝组织细胞增生症 (SBH)的诊断及鉴别诊断。方法　对 3例以慢性进行性神经系统受累为主要表现的SBH患儿进行详细的病史询问、体格检查及实验室检查。结果　 3例患儿均表现智力减退 ,双眼球上、下视活动障碍 ,说话缓慢不清及步态不稳。例 1有可疑的家族史 ,例 2、3为同胞姐妹。骨髓细胞学检查发现海蓝组织细胞 ,未见其他特殊细胞。结论　儿童进行性精神运动发育迟滞伴垂直性注视麻痹、慢性进行性神经系统受累伴肝脾异常是以神经系统受累为主要表现的SBH的临床特征。骨髓形态学检查发现海蓝组织细胞是诊断SBH的重要依据。临床上需与肝豆状核变性、脱髓鞘疾病。Objective The previously reported clinical findings in patients with sea blue histiocytosis (SBH) in China included hepatosplenomegaly, anemia and thrombocytopenia. This study reported the chronic progressive neurological impairment in patients with SBH. Method Data on clinical history, physical and laboratory examinations were collected in 3 patients with SBH who developed chronic progressive neurological damages. Results The clinical findings of three patients included mental deterioration, paresis of vertical gaze, speaking slowly, alalia and unsteady walking. The second and third patient who were sisters had difficulties in swallowing and torsion spasm. The first patient had questionable family′s history. Physical examination revealed dysarthria, gait ataxia, paresis of vertical gaze, pyramidal and positive cerebella signs. The second and third patient had mild splenomegaly. Laboratory study showed normal serum ceruloplasmin level. The antibodies of measles and rubella virus were negative in cerebrospinal fluid. Bone marrow study revealed sea blue histiocytes. Liver function of the first patient was slightly abnormal. The serum lactic acid and acetone acid examinations were abnormal in the first patient. Conclusion The most common feature in patient with SBH who had neurologic damage is progressive psychomotor deterioration with vertical gaze paresis. Second feature is chronic progressive neurological impairment with abnormal liver function and/or splenomegaly. Bone marrow examination is of importance for diagnosing SBH. SBH with neurological damage should be distinguished from Wilson′s disease, demyelinating disease, mitochondrial encephalo myopathy, slow virus infection of neural system.

关 键 词：海蓝组织细胞综合征 神经系统疾病 骨髓细胞 鉴别诊断 儿童 

分 类 号：R589[医药卫生—内分泌]