身材矮小1型神经纤维瘤病儿童一例并文献复习

发布时间：2018-04-08 08:13

本文选题：1型神经纤维瘤病　切入点：身材矮小　出处：《福建医科大学》2014年硕士论文

【摘要】：介绍：1型神经纤维瘤病是神经纤维瘤病中最常见的类型。该病主要临床特征是牛奶咖啡斑、神经纤维瘤、虹膜结节、腋窝和腹股沟雀斑、视路神经胶质瘤和特征性的骨骼发育异常。身材矮小和巨颅是该病的次要特征。1型神经纤维瘤病相关的身材矮小的可能机制之一是神经纤维瘤蛋白可以调节下丘脑和垂体的功能。病例报告：一名7岁的女性儿童因生长缓慢入院。体格检查：身高108.0cm（低于正常人群平均值的2个标准差以上），，躯干和四肢可见大量牛奶咖啡斑和腋窝及腹股沟雀斑，裂隙灯检查发现虹膜结节。临床实验室检查发现生长激素、胰岛素样生长因子-1、促甲状腺激素、游离三碘甲状腺原氨酸、游离甲状腺素、促肾上腺皮质激素、黄体生成素和卵泡刺激素均在正常范围。精氨酸生长激素刺激试验提示生长激素缺乏症。左腕关节骨龄相当于4岁。颅脑磁共振可见多发的T2高信号区。临床诊断为1型神经纤维瘤病、生长激素缺乏症。结论：1型神经纤维瘤病儿童可能出现生长激素缺乏症而表现为身材矮小。所有身材矮小并伴皮肤牛奶咖啡斑或腋窝和腹股沟雀斑的儿童均需考虑NF1的可能,需进行裂隙灯检查。
[Abstract]:This paper introduces that neurofibromatosis type 1 is the most common type of neurofibromatosis.The main clinical features of the disease are coffee spots in milk, neurofibroma, iris nodules, axillary and inguinal freckles, optic gliomas and characteristic skeletal dysplasia.Short stature and giant cranium are secondary features of the disease type .1 neurofibromatosis associated with short stature one of the possible mechanisms is that neurofibroma protein can regulate the function of hypothalamus and pituitary.Case report: a 7-year-old female child was admitted to hospital with slow growth.Physical examination: height was 108.0 cm (above 2 standard deviations below the average of normal population), a large amount of milk coffee spots, axillary and inguinal freckles were found in trunk and extremities, iris nodules were found by slit lamp examination.Growth hormone, insulin-like growth factor -1, thyrotropin, free triiodothyronine, free thyroxine, adrenocorticotropic hormone, luteinizing hormone and follicle stimulating hormone were found in the clinical laboratory.Arginine growth hormone stimulation test suggested growth hormone deficiency.The bone age of the left wrist is 4 years old.Multiple T 2 hyperintense areas can be seen on craniocerebral MRI.Clinical diagnosis of type 1 neurofibromatosis, growth hormone deficiency.Conclusion growth hormone deficiency may occur in children with type 1 neurofibromatosis and their stature is short.All small children with milky coffee spots or axillary and groin freckles should consider the possibility of NF1 and be examined by slit lamp.
【学位授予单位】：福建医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R739.4

【相似文献】