Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
권호 표지
DOI QR코드

DOI QR Code

Septo-optic dysplasia plus diagnosed in a middle-aged woman

  • Oh, Seung Tae (Department of Neurology, Busan Paik Hospital, Inje University College of Medicine) ;
  • Kang, Mi-Ri (Department of Neurology, Busan Paik Hospital, Inje University College of Medicine) ;
  • Oh, Seong-il (Department of Neurology, Busan Paik Hospital, Inje University College of Medicine) ;
  • Kim, Eung Gyu (Department of Neurology, Busan Paik Hospital, Inje University College of Medicine) ;
  • Kim, Sang Jin (Department of Neurology, Busan Paik Hospital, Inje University College of Medicine) ;
  • Seo, Jung Hwa (Department of Neurology, Busan Paik Hospital, Inje University College of Medicine) ;
  • Chung, Eun Joo (Department of Neurology, Busan Paik Hospital, Inje University College of Medicine) ;
  • Ji, Ki-Hwan (Department of Neurology, Busan Paik Hospital, Inje University College of Medicine)
  • Received : 2018.01.29
  • Accepted : 2018.06.17
  • Published : 2018.07.31
Download PDF
⟨ Previous Next ⟩

Abstract

Septo-optic dysplasia is a congenital anomaly with diverse phenotypes from normal to mixtures of visual abnormality, endocrine dysfunction, psychomotor retardations and epileptic seizures. It is characterized by optic atrophy, pituitary dysfunction and midline structure abnormalities in corpus callosum or septum pellucidum. Diagnosis of septo-optic dysplasia plus is made when cortical malformations accompanied. Here we report a middle-aged woman with septo-optic dysplasia plus having unilateral optic atrophy, agenesis of septum pellucidum and cortical malformations.

Keywords

References

  1. Kelberman D, Dattani MT. Genetics of septo-optic dysplasia. Pituitary 2007;10:393-407. https://doi.org/10.1007/s11102-007-0055-5
  2. Webb EA, Dattani MT. Septo-optic dysplasia. Eur J Hum Genet 2010;18:393-397. https://doi.org/10.1038/ejhg.2009.125
  3. Matushita JP Jr, Tiel C, Batista RR, Py M, Gasparetto EL. Septo-optic dysplasia plus: clinical presentation and magnetic resonance imaging findings. Arq Neuropsiquiatr 2010;68:315-316. https://doi.org/10.1590/S0004-282X2010000200032
  4. Miller SP, Shevell MI, Patenaude Y, Poulin C, O'Gorman AM. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology 2000;54:1701-1703. https://doi.org/10.1212/WNL.54.8.1701
  5. Alt C, Shevell MI, Poulin C, Rosenblatt B, Saint-Martin C, Srour M. Clinical and radiologic spectrum of septo-optic dysplasia: review of 17 cases. J Child Neurol 2017;32:797-803. https://doi.org/10.1177/0883073817707300
  6. Haddad NG, Eugster EA. Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia. J Pediatr Endocrinol Metab 2005;18:853-858.
  7. AlKhateeb M, McLachlan R, Burneo J, Diosy D, Mirsattari S. Six adult patients with septo-optic dysplasia and drug-resistant epilepsy: clinical findings and course. Epilepsy Behav Case Rep 2017;8:73-84. https://doi.org/10.1016/j.ebcr.2017.04.001