Neonatal Medicine

The Korean Society of Neonatology (대한신생아학회)
권호 표지

A Neonatal Case of Septo-Optic Dysplasia with Schizencephaly

분열뇌증을 동반한 중격 시신경 형성장애 신생아 1례

  • Lee, Won-Hee (Department of Pediatrics, Collage of Medicine Chosun University) ;
  • Kim, Eun-Young (Department of Pediatrics, Collage of Medicine Chosun University) ;
  • Park, Sang-Kee (Department of Pediatrics, Collage of Medicine Chosun University)
  • 이원희 (조선대학교 의과대학 소아과학교실) ;
  • 김은영 (조선대학교 의과대학 소아과학교실) ;
  • 박상기 (조선대학교 의과대학 소아과학교실)
  • Published : 2009.05.31

⟨ Previous Next ⟩

Abstract

Septo-optic dysplasia is a rare congenital disorder characterized by the absence of the septum pallucidum, hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. Schizencephaly is an abnormal cleft in the brain, lined with gray matter which may communicate with the ventricular system. Septo-optic dysplasia with schizencephaly is associated with endocrinologic disorders, visual impairment, mental retardation, and seizures. We report a case of septo-optic dysplasia with schizencephaly which was diagnosed in the early neonatal period.

저자들은 산전과 출생 초기에 시행한 두부 초음파에서 뇌실 확장과 뇌량 무형성증을 보여 조기에 진단된 분열뇌증을 동반한 중격 시신경 형성장애 신생아 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Keywords

References

  1. De Morsier G. Studies on malformation of cranio-encephalic sutures. III. Agenesis of the septum lucidum with malformation of the optic tract. Schweiz Arch Neurol Psychiatr 1956:77:267-92.
  2. Donat JF. Septo-optic dysplasia in an infant of a diabetic mother. Arch Neurol 1981:38:590-1. https://doi.org/10.1001/archneur.1981.00510090084012
  3. Polizzi A, Pavone P, Iannetti P, Manfre L, Ruggieri M. Septo-optic dysplasia complex: a heterogeneous malformation syndrome. Pediatr Neurol 2006;34:66-71. https://doi.org/10.1016/j.pediatrneurol.2005.07.004
  4. Skarf B, Hoyt CS. Optic nerve hypoplasia in child rep: association with anomalies of the endocrine and CNS. Arch Ophthalmol 1984:102:62-67. https://doi.org/10.1001/archopht.1984.01040030046032
  5. Lau KY, Tam W, Lam PK. Wood BP. Radiological cases of the month. Septo-optic dysplasia (De Morsier syndrome). Am J Dis Child 1993:147:71-2.
  6. Komamiski CA, Cyr DR, Mack LA, Weinberger E. Prenatal diagnosis of schizencephaly. J Ultrasound Med 1990;9;305-7. https://doi.org/10.7863/jum.1990.9.5.305
  7. Truex RC, Carpenter MB. Human neuroanatomy. Baltimore: Williams and Wilkins, 1969:89.
  8. Klingensmith WC 3rd, Cioffi-Ragan DT. Schizencephaly: diagnosis and progression in utero. Radiology 1986;159:617-8.
  9. Haverkamp F, Zerres K, Ostertum B, Emons D, Lentze MJ. Familial schizencephaly: further delineation of a rare disorder. J Med Genet 1995;32:242-4. https://doi.org/10.1136/jmg.32.3.242
  10. Norman MG. Bilateral encephaloclastic lesions in a 26 weeks gestation fetus: effect on neuroblast migration. Can J Neurol Sci 1980;7: 191-4. https://doi.org/10.1017/S0317167100023180
  11. Iannetti P, Nigro G, Spalice A, Faiella A, Boncinelli E. Cytomegalovirus infection and schizencephaly: case reports. Ann Neurol 1998:43:123-7. https://doi.org/10.1002/ana.410430122
  12. Barkovich AJ. Fram EK, Norman D. Septo-optic dysplasia: MR imaging. Radiology 1989;171:189-92. https://doi.org/10.1148/radiology.171.1.2928524
  13. Hoyt WF, Kaplan ST, Grumbach MM, Glaser JS. Septo-optic dysplasia and pituitary dwarfism. Lancet 1970:1:893-4.
  14. Margalith D, Tze WJ, Jan JE. Congenital optic nerve hypoplasia with hypothalamic-pituitary dysplasia. A review of 16 cases. Am J Dis Child 1985; 139:361-6. https://doi.org/10.1001/archpedi.1985.02140060043025
  15. Yakovlev PI, Wadsworth RC, Schizencephalies: a study of the congenital clefts in the cerebral mantle. I. Clefts with fused lips. J Neuropathol Exp Neurol 1946:5:116-30. https://doi.org/10.1097/00005072-194604000-00003
  16. Riedl S, Vosahlo J, Battelino T, Stirn-Kranjc B, Brugger PC. Prayer D, et al. Refining clinical phenotypes in septo-optic dysplasia based on MRI findings. Eur J Pediatr 2008:167:1269-76. https://doi.org/10.1007/s00431-007-0666-x
  17. Leblanc R, Tampieri D, Robitaille Y, Feindel W, Andermann F. Surgical treatment of intractable epilepsy associated with schizencephaly. Neurosurgery 1991:29:421-9. https://doi.org/10.1227/00006123-199109000-00015
  18. Ahn HS, Ahn BK, Han HJ, A case of septo-optic dysplasia-schizencephaly complex. J Korean Ophthalmol Soc 1993:34:70-4.