CASE HISTORY – May 2004

Septo-optic dysplasia or De Morsier Syndrome

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Abstract

We investigated a 6-years-old boy, who satisfied the criteria for septo-optic dysplasia (SOD). SOD is charac-terized by a combination of midline forebrain abnormali-ties, eye abnormalities and pituitary abnormalities. At examination, complete visual impairment (bilateral optic nerve hypoplasia), poor growth with growth hormone deficiency and absence of septum pellucidum were revealed. In addition, an overview of the diagnostic and treatment options is reported.