Ⅰ型神经纤维瘤病合并Ⅰ型Chiari畸形一例报告
被引量:1
摘要
患者 男,20岁,因脊柱侧凸16年入院。侧凸畸形进行性缓慢加重,从未治疗,近3年来出现运动过多或久坐、久站后腰痛。患者母亲有神经纤维瘤病家族史。体格检查:患者体格、智力发育正常,视力、听力正常。全身多处散在牛奶咖啡斑,未触及皮下包块,剃刀背畸形,左肩较右肩低4cm(图1),右侧髂嵴较左侧高2cm,四肢肌力、感觉正常。右侧腹壁反射减弱,病理征未引出。X线片显示:胸腰双主弯,
出处
《中华骨科杂志》
CAS
CSCD
北大核心
2010年第8期802-804,共3页
Chinese Journal of Orthopaedics
参考文献11
-
1Battistella PA,Perilongo G,Carollo C.Neurofibromatosis type 1 and type Ⅰ Chiari malformation:an unusual association.Childs Nerv Syst,1996,12(6):336-338.
-
2Dooley J,Vaughan D,Riding M,et al.The association of Chiari type Ⅰ malformation and neurofibromatosis type 1.Clin Pediatr (Phila),1993,32(3):189-190.
-
3陈晖,邱勇.Ⅰ型神经纤维瘤病的遗传学特征[J].脊柱外科杂志,2005,3(4):240-243. 被引量:1
-
4Tubbs RS,Rutledge SL,Kosentka A,et al.Chiari Ⅰ malformation and neurofibromatosis type 1.Pediatr Neurol,2004,30 (4):278-280.
-
5Tubbs RS,Oakes WJ.Dural ectasia in neurofibromatosis.Pediatr Neurosurg,2002,37(6):331-332.
-
6Parkinson D,Hay R.Neurofibromatosis.Surg Neurol,1986,25(1):109-113.
-
7National Institutes of Health Consensus Development Conference Statement:neurofibromatosis.Bethesda,Md.,USA,July 13-15,1987.Neurofibromatosis,1988,1(3):172-178.
-
8朱锋,邱勇,王斌,俞杨,朱泽章.神经纤维瘤病致营养不良性脊柱侧凸的影像学特征和临床意义[J].脊柱外科杂志,2003,1(2):68-71. 被引量:20
-
9Meadows J,Kraut M,Guarnieri M,et al.Asymptomatic Chiari Type Ⅰ malformations identified on magnetic resonance imaging.J Neurosurg,2000,92(6):920-926.
-
10朱泽章,邱勇,王斌,俞杨,钱邦平,朱锋,马薇薇.脊柱侧凸伴发Chiari畸形和脊髓空洞的影像学特征及临床意义[J].中华骨科杂志,2007,27(11):801-807. 被引量:5
二级参考文献67
-
1邱勇,王斌,朱泽章,吕锦瑜,俞杨,朱丽华.脊柱侧凸伴发Chiari畸形和(或)脊髓空洞的手术治疗[J].中华骨科杂志,2003,23(9):564-567. 被引量:30
-
2[1]Yagle MK, Parruti G, Xu W, et al. Genetic and physical map of the von Recklinghausen neurofibromatosis ( NF-1 ) region on chromosome 17. Proc Natl Acad Sci U S A, 1990, 87:7255 -7259
-
3[2]Skuse GR, Cappione AJ. RNA processing and clinical variability in neurofibromatosis type 1 (NF-1). Hum Mol Genet, 1997, 6:1707 - 1712
-
4[3]Xu GF, OConnell P, Viskochil D, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell, 1990, 62:599 - 608
-
5[4]Fahsold R, Hoffmeyer S, Mischung C, et al. Minor lesion mutational spectrum of the entire NF-1 gene does not explain its high mutability but points to a functional domain upstream of the GAP -related domain. Am J Hum Genet, 2000, 66:790 - 818
-
6[5]Horan MP, Cooper DN, Upadhyaya M. Hypermethylation of the neurofibromatosis type 1 ( NF-1 ) gene promoter is not a common event in the inactivation of the NF-1 gene in NF-i - specific tumours. Hum Genet, 2000, 107: 33 -39
-
7[6]Carey JC, Viskochil DH. Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders. Am J Med Genet, 1999,89:7 -13
-
8[7]Lopez - Correa C, Dorschner M, Brems H, et al. Recombination hotspot in NF-1 microdeletion patients. Hum Mol Genet, 2001,10:1387 - 1392
-
9[8]Lopez - Correa C, Dorschner M, Brems H, et al. Recombination hotspot in NF-1 microdeletion patients. Hum Mol Genet, 2001,10:1387 - 1392
-
10[9]Rasmussen SA, Ho VT, Colman SD, et al. A multiplex - PCR test for EV12A and EV12B polymorphisms within the human NF-1 gene. Mamm Genome, 1996, 7: 233 - 234
共引文献23
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1陈晖,邱勇,王斌,俞扬,朱泽章,朱锋,钱邦平,马薇薇.Ⅰ型神经纤维瘤病成骨细胞生物学特性的研究[J].中华骨科杂志,2006,26(5):327-331. 被引量:4
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2刘安,周宏伟,李晶波,赵国库.脊柱侧凸并发脊髓异常的MRI影像学特征分析[J].吉林大学学报(医学版),2007,33(1):170-172.
-
3邱勇.提高对Ⅰ型神经纤维瘤病性脊柱侧凸后路矫形椎弓根螺钉误置的认识[J].中国脊柱脊髓杂志,2010,20(5):353-355. 被引量:4
-
4束昊,邱勇,孙超,刘文军,王信华,俞杨,朱泽章.青少年Ⅰ型神经纤维瘤病性脊柱侧凸患者Cobb角与骨密度的相关性分析[J].中国脊柱脊髓杂志,2010,20(5):363-366. 被引量:5
-
5王守丰,邱勇.Ⅰ型神经纤维瘤病骨骼表现及骨代谢异常的研究进展[J].中华外科杂志,2010,48(15):1187-1189. 被引量:6
-
6袁硕,邱勇,朱锋,王守丰,王斌,俞杨,朱泽章,钱邦平,孙旭.青少年Ⅰ型神经纤维瘤病性脊柱侧凸患者的骨密度[J].中国脊柱脊髓杂志,2011,21(4):280-284. 被引量:2
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7刘学光,邱勇,孙旭,袁硕,钱邦平,王渭君,王守丰,王斌,俞杨,周松.Ⅰ型神经纤维瘤病营养不良性脊柱侧凸患者椎体生长板软骨细胞的功能变化及意义[J].中国脊柱脊髓杂志,2011,21(7):592-596.
-
8吴涛,邱勇.青少年Chiari畸形后颅窝减压术后脊柱侧凸的转归[J].中华骨科杂志,2012,32(1):86-88.
-
9朱承跃,王守丰,邱勇,王渭君,汪飞.Ⅰ型神经纤维瘤病伴脊柱侧凸患者肋骨头脱入椎管的影像学特征[J].中国脊柱脊髓杂志,2013,23(2):124-128. 被引量:4
-
10杨宗,朱泽章,邱勇,王渭君,周松,沙士甫,伍伟飞,王守丰.NF-1伴非萎缩型胸椎侧凸与胸弯型AIS及正常青少年矢状面形态的比较研究[J].中国矫形外科杂志,2013,21(15):1533-1537.
-
1陈利君,钟国成,夏天,周生焰.MRI诊断颅骨骨巨细胞瘤1例[J].西南军医,2007,9(5):152-152.
-
2邱勇,贺永雄,俞杨.巨大椎旁神经节细胞瘤伴发脊柱侧凸一例报告[J].中华骨科杂志,2005,25(11):702-703.
-
3陈萍.脊柱侧凸220例围手术期并发症的观察与护理[J].齐鲁护理杂志,2006,12(02B):334-335.
-
4李秋泽,赵铁军,杨立信,徐志云.节细胞神经瘤伴脊柱侧凸一例报告并文献复习[J].中国全科医学,2009,12(4):314-315. 被引量:2
-
5杨建东,沈康平.胸椎动脉瘤样骨囊肿致脊柱侧凸1例报告[J].脊柱外科杂志,2003,1(1).
-
6卢旭华,刘祖德,孙海燕.节细胞神经瘤致脊柱侧凸1例报道[J].中国矫形外科杂志,2004,12(9):717-718. 被引量:2
-
7周庆,杨乐晋.巨大神经纤维瘤恶变病例报告1例[J].四川医学,2014,35(8):1085-1085. 被引量:1
-
8姜海鸥,黄雪霜,李新明.神经纤维瘤一家系七例[J].中华医学遗传学杂志,2010,27(2):213-213.
-
9李天平.Chiari畸形的MRI诊断(附13例报告)[J].中国中医药咨讯,2010(2):211-211.
-
10欧阳海,吴天鹏.神经纤维瘤病致肾积水一例[J].临床外科杂志,2008,16(5):321-321.