Ann Clin Neurophysiol.  2018 Jul;20(2):85-88. 10.14253/acn.2018.20.2.85.

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

• Oh ST
• Kang MR
• Oh SI
• Kim EG
• Kim SJ
• Seo JH
• Chung EJ
• Ji KH

• KMID: 2454710
• DOI: http://doi.org/10.14253/acn.2018.20.2.85

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.

Keyword

Septo-optic dysplasia; Optic atrophy; Congenital abnormalities

MeSH Terms

Congenital Abnormalities
Corpus Callosum
Diagnosis
Epilepsy
Female
Humans
Optic Atrophy
Phenotype
Septo-Optic Dysplasia*
Septum Pellucidum

Figure

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  Fig. 1 Fundus photo (A) and brain MRI (B-D). (A) Relative disc pallor in the right eye compared to the left. (B) Lissencephaly (thick arrow), gray matter heterotopia (thin arrow) and absent of septum pellucidum on coronal short tau inversion recovery fluid-attenuated inversion recovery MRI. (C) Schizencephaly (thick arrow) on axial fluid-attenuated recovery MRI. (D) Hypoplasia of right optic nerve (arrow head) on T2 axial MRI. MRI, magnetic resonance imaging.

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