J Korean Endocr Soc.  2009 Mar;24(1):33-37. 10.3803/jkes.2009.24.1.33.

A Case of Septo-optic Dysplasia Associated with Anterior Pituitary Hormone Abnormalities

• Lee JW
• Hwang EK
• Kim TH
• Yoon HY
• Jung JH
• Choi YW
• Yong SW
• Ahn JH
• Kim SY
• Kim HS
• Chung YS

• KMID: 1468493
• DOI: http://doi.org/10.3803/jkes.2009.24.1.33

Abstract

Septo-optic dysplasia (SOD) is a rare congenital malformation syndrome that is manifested by a triad of optic nerve hypoplasia, midline brain abnormalities and hypopituitarism. It is known to be associated with homeobox gene HESX1 mutation in some familial cases.

Keyword

Septo-optic dysplasia; hypopituitarism; HESX1 mutation

MeSH Terms

Brain
Genes, Homeobox
Hypopituitarism
Optic Nerve
Septo-Optic Dysplasia

Figure

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  Fig. 1 Brain MRI. A, B. T1-weighted sagittal view showed complete agenesis of corpus callosum and septum pellucidum. Hypoplasia of anterior pituitary gland and ectopic location of posterior pituitary gland were observed. Herniation of infundibular recess of the third ventricle into pituitary fossa was noted. C. There was no corpus callosum or anterior commisure in T2-weighted axial view. D. Ectopic posterior pituitary gland was well visualized in T1-weighted coronal view.

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  Fig. 2 Ophthalmologic examination. A. Visual field analysis showed generalized reduction of sensitivity without significant visual field defect in both eyes. B. Optical coherence tomography showed focal retinal nerve fiber layer defect in superior segments of optic nerve head in both eyes (red arrow) suggesting mild optic nerve hypoplasia.

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