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视隔发育不良的临床特征

谢洪彬 程钢炜 睢瑞芳

谢洪彬, 程钢炜, 睢瑞芳. 视隔发育不良的临床特征[J]. 协和医学杂志, 2013, 4(2): 118-122. doi: 10.3969/j.issn.1674-9081.2013.02.007
引用本文: 谢洪彬, 程钢炜, 睢瑞芳. 视隔发育不良的临床特征[J]. 协和医学杂志, 2013, 4(2): 118-122. doi: 10.3969/j.issn.1674-9081.2013.02.007
Hong-bin XIE, Gang-wei CHENG, Rui-fang SUI. Clinical Characteristics of Septo-optic Dysplasia[J]. Medical Journal of Peking Union Medical College Hospital, 2013, 4(2): 118-122. doi: 10.3969/j.issn.1674-9081.2013.02.007
Citation: Hong-bin XIE, Gang-wei CHENG, Rui-fang SUI. Clinical Characteristics of Septo-optic Dysplasia[J]. Medical Journal of Peking Union Medical College Hospital, 2013, 4(2): 118-122. doi: 10.3969/j.issn.1674-9081.2013.02.007

视隔发育不良的临床特征

doi: 10.3969/j.issn.1674-9081.2013.02.007
详细信息
    通讯作者:

    睢瑞芳 电话:010-69156354, E-mail:hrfsui@163.com

  • 中图分类号: R774.7

Clinical Characteristics of Septo-optic Dysplasia

More Information
    Corresponding author: SUI Rui-fang Tel: 010-69156354, E-mail:hrfsui@163.com
  • 摘要:   目的  探讨视隔发育不良患者的临床特征。  方法  2009年4月至2012年12月北京协和医院眼科通过眼科检查、头颅磁共振及实验室检测, 确诊4例视隔发育不良患者, 并对患者进行随诊。  结果  4例患者均有双侧视神经发育不良、视力低下和眼球震颤。1例患者有身材矮小、癫痫、智力低下及类胰岛素样生长因子1水平减低; 其余3例智力及运动发育迟缓。头颅磁共振显示1例患者视神经和视交叉变细, 垂体结构不清; 余3例均表现为脑中线结构缺陷, 包括典型胼胝体缺如、左侧脑发育不良、脑室扩张和胼胝体较薄。  结论  严重视力损伤、视神经发育不良、脑中部缺陷、垂体相关激素异常及智力和运动发育迟缓是该组视隔发育不良患者的主要临床特征。
  • 图  1  视隔发育不良患者1双眼彩色眼底像(A:左眼; C:右眼)和视网膜神经纤维层厚度曲线(B:左眼; D:右眼)

    双眼视盘颞侧苍白,左眼视网膜神经纤维层变薄,右眼下方视网膜神经纤维层变薄,上方、颞侧、鼻侧视网膜神经纤维层均可疑变薄

    图  2  视隔发育不良患者头颅磁共振图像

    A.病例1, 漏斗部及垂体柄显示欠清(白色箭头); B.病例4, 双侧脑室系统扩张(白色箭头), 双侧额角扩张(黑色箭头)

    表  1  4例视隔发育不良患者的临床特征

  • [1] Reeves DL. Congenital absence of septum pellucidum[J]. Bull Johns Hopkins Hosp, 1941, 69:61-71. http://ci.nii.ac.jp/naid/10013215746
    [2] De Morsier G. Studies on malformation of cranio-encephalic sutures. Ⅲ. Agenesis of the septum lucidum with malformation of the optic tract[J]. Schweiz Arch Neurol Psychiatr, 1956, 77:267-292. http://www.ncbi.nlm.nih.gov/pubmed/13360148
    [3] Patel L, McNally RJ, Harrison E, et al. Clayton PE geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England[J]. J Pediatr, 2006, 148:85-88. doi:  10.1016/j.jpeds.2005.07.031
    [4] McNay DE, Turton JP, Kelberman D, et al. HESX1 mutations are an uncommon cause of septo-optic dysplasia and hypopituitarism[J]. J Clin Endocrinol Metab, 2007, 92:691-697. doi:  10.1210/jc.2006-1609
    [5] Kelberman D, Dattani MT. Genetics of septo-optic dysplasia[J]. Pituitary, 2007, 10:393-407. doi:  10.1007/s11102-007-0055-5
    [6] Dattani MT. Growth hormone deficiency and combined pituitary hormone deficiency:does the genotype matter?[J]. Clin Endocrinol (Oxf), 2005, 63:121-130. doi:  10.1111/j.1365-2265.2005.02289.x
    [7] Izenberg N, Rosenblum M, Parks JS. The endocrine spectrum of septo-optic dysplasia[J]. Clin Pediatr, 1984, 23:632-636. doi:  10.1177/000992288402301105
    [8] Zeki SM, Hollman AS, Dutton GN. Neuroradiological features of patients with optic nerve hypoplasia[J]. J Pediatr Ophthalmol Strabismus, 1992, 29:107-111. http://www.ncbi.nlm.nih.gov/pubmed/1588471
    [9] Kelberman D, Dattani MT. Septo-optic dysplasia:novel insights into the aetiology[J]. Horm Res, 2008, 69:257-265. doi:  10.1159/000114856
    [10] Brodsky MC, Glasier CM. Optic nerve hypoplasia:clinical significance of associated central nervous system abnormalities on magnetic resonance imaging[J]. Arch Ophthalmol, 1993, 111:66-73. doi:  10.1001/archopht.1993.01090010070029
    [11] Morishima A, Aranoff GS. Syndrome of septo-optic-pituitary dysplasia:the clinical spectrum[J]. Brain Dev, 1986, 8:233-239. doi:  10.1016/S0387-7604(86)80075-4
    [12] Haddad NG, Eugster EA. Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia[J]. J Pediatr Endocrinol Metab, 2005, 18:853-858. http://www.ncbi.nlm.nih.gov/pubmed/16279362
    [13] Garcia ML, Ty EB, Taban M, et al. Systemic and ocular findings in 100 patients with optic nerve hypoplasia[J]. J Child Neurol, 2006, 21:949-956. doi:  10.1177/08830738060210111701
    [14] Jana M, Sharma S. Bilateral anophthalmia with septo-optic dysplasia[J]. Oman J Ophthalmol, 2010, 3:286-288. http://www.ncbi.nlm.nih.gov/pubmed/21217902
    [15] Campbell CL. Septo-optic dysplasia:a literature review[J]. Optometry, 2003, 74:417-426. http://europepmc.org/abstract/MED/12877274
    [16] Alatzoglou KS, Kelberman D, Dattani MT. The roleof SOX proteins in normal pituitary development[J]. J Endocrinol, 2009, 200:245-258. http://www.ncbi.nlm.nih.gov/pubmed/19074474
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出版历程
  • 收稿日期:  2013-02-04
  • 刊出日期:  2013-04-30

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