小脑扁桃体下疝畸形合并垂体前叶激素缺乏三例临床特征分析  

Clinical Features of Three Cases of Tonsillar Hernia Malformation Combined With Anterior Pituitary Hormone Deficiencies

作　　者：王英南[1,2] 陈康[1] 杨国庆[1] 窦京涛[1] 杜锦[1] 谷伟军[1] 臧丽[1] 金楠[1] 巴建明[1] 吕朝晖[1] 母义明[1] 

机构地区：[1]中国人民解放军总医院内分泌科,北京市100853 [2]承德医学院附属医院内分泌科

出　　处：《中国全科医学》2016年第21期2577-2580,共4页Chinese General Practice

摘　　要：目的通过对小脑扁桃体下疝畸形（Chiari畸形）合并垂体前叶激素缺乏患者临床特征进行分析,加强对本病的认识。方法分析2010年9月—2014年6月中国人民解放军总医院内分泌科住院的3例Chiari畸形合并垂体前叶激素缺乏患者一般资料、临床表现、实验室检查结果和影像学检查结果。结果 3例患者外生殖器阴毛稀疏或无,阴茎短小;患者1、3身材矮小,3例患者骨龄均落后2～3年、心功能未见异常。内分泌功能检查显示,患者1生长激素（GH）、促肾上腺皮质激素（ACTH）、促甲状腺激素（TSH）、促黄体生成素（LH）、促卵泡刺激素（FSH）均缺乏,患者2垂体前叶激素LH、FSH缺乏,患者3垂体前叶激素GH缺乏。MRI显示3例患者均表现为小脑扁桃体下疝畸形,患者1、3伴脊髓空洞症;患者1垂体前叶高度降低,垂体后叶正常短T1信号影未显示,垂体柄未显示;患者2垂体略变窄,高度约4 mm,左翼见稍长T1信号影,增强扫描后呈相对稍低T1信号影;患者3 T1信号影未见明显异常。结论 Chiari畸形患者临床表现多样,可以合并垂体前叶激素缺乏,MRI检查可伴脊髓空洞症或T1信号影异常。Objective To analyze the clinical features of patients with tonsillar hernia malformation（ Chiari malformation） combined with anterior pituitary hormone deficiencies, in order to improve the understanding about this disease. Methods The general data,clinical features,laboratory examination results and imaging examination results of three patients with Chiari malformation combined with anterior pituitary hormone deficiencies who were admitted into the Department of Endocrinology of PLA General Hospital from September 2010 to June 2014 were analyzed. Results The three patients had few or no pubes on externalia and small penises. Patient 1 and patient 3 had small stature,and the three patients lagged behind in bone age for 2 to 3 years. No abnormality was noted in cardiac function. The examination of endocrine functions showed that patient 1had deficiency in GH,ACTH,TSH,LH and FSH,patient 2 had deficiency in LH and FSH,and patient 3 had deficiency in GH. MRI showed that the 3 patients all had tonsillar hernia malformation,and patient 1 and patient 3 also had syringomyelia;patient 1 had decrease in the height of prepituitary gland,without normal posterior pituitary short T1 signal noted and pituitary stalk observed; hypophysis of patient 2 narrowed slightly,with an height of 4 mm,and slightly longer T1 signal shadow was noted in the left wing and became slightly lower after scan enhancement; no abnormalities were noted in the T1 signal shadow of patient 3. Conclusion The clinical manifestations of Chiari malformation patients are diverse,and anterior pituitary hypofunction is combined. MRI may show syringomyelia or T1 signal shadow abnormality.

关 键 词：ARNOLD-CHIARI畸形 垂体功能减退症 疾病特征 

分 类 号：R741[医药卫生—神经病学与精神病学]