Volume 4 Issue 2
Apr.  2013
Turn off MathJax
Article Contents
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

Clinical Characteristics of Septo-optic Dysplasia

doi: 10.3969/j.issn.1674-9081.2013.02.007
More Information
  • Corresponding author: SUI Rui-fang Tel: 010-69156354, E-mail:hrfsui@163.com
  • Received Date: 2013-02-04
  • Publish Date: 2013-04-30
  •   Objective  To summarize the clinical characteristics of septo-optic dysplasia (SOD).  Methods  The clinical data of 4 SOD patients who were admitted to our department from April 2009 to December 2012 were retrospectively analyzed. The diagnosis was based on comprehensive clinical evaluations including ophthalmological examination, brain magnetic resonance imaging (MRI) and laboratory tests. All 4 patients were followed up.  Results  All 4 patients had bilateral optic nerve dysplasia, severe visual impairment and nystagmus. One patient had short stature, seizures, mental retardation, nystagmus and insulin-like growth factor 1 (IGF-1) deficiency. The other 3 patients had development retardation. On the brain MRI, one patient showed blurred pituitary structure, thin optic nerves and optic chiasm. Midline brain defects, including absence of corpus callosum brain dysplasia, agenesis of corpus callosum and dilation of ventricular system were observed in the other patients.  Conclusions  Severe visual impairment, optic nerve dysplasia, midline brain defects, pituitary endocrine dysfunction and development retardation are the main clinical characteristics of SOD.
  • loading
  • [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
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Figures(2)  / Tables(1)

    Article Metrics

    Article views (194) PDF downloads(11) Cited by()
    Proportional views
    Related

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return