Archivio istituzionale della ricerca dell'Università degli Studi di Palermo

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Introduction: Septo-optic dysplasia (SOD) is an uncommon developmental disorder involving variable midline brain structures, characterized by optic nerve hypoplasia, dysgenesis of septum pellucidum and pituitary- hypothalamic dysfunction with consequent endocrine deficits. The association of septo-optic dysplasia and cortical dysplasia is described as septo-optic dysplasia-plus. Reports on patients with septo-optic dysplasia-plus have been rare. Other distinct features, which occur especially when cerebral cortical abnormalities are also present (SOD- plus), consist of significant generalized developmental delay and/or spastic motor deficits. Methods: We report a 10-year-old boy with septo-optic dysplasia-plus syndrome, characterized by septo-optic dysplasia with schizencephaly, significant generalized developmental delay, spastic motor deficits and seizure intractable. Extraction of DNA for gene EMX2 is in the process of reporting Results: Neuroimaging studies revealed schizencephaly with enormous ex vacuo dilation of the occipital horns of the lateral ventricles that involves medium cells up to the vertex of the brain; the residual frontal cortex of both sides develop a pachigiric aspect, especially in parasagittal regions; the corpus callosum is represented in all its sections but slightly hypoplastic at the rostrum and the splenium. There are also dislocated left femoral head, optic atrophy, deficiency determination and alternating exotropia bilaterally Conclusion: Schizencephaly is a distinct congenital cerebral malformation presenting as transcerebral mantle cleft between lateral ventricle and pial surface. Nearly half of the patients with SOD have schizencephaly. When the SOD is associated to open-lip schizencephaly, the subjects have a poor prognosis with respect to psychomotor development and complicating intractable epilepsy.

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