Septo-optic dysplasia-plus and dyskinetic cerebral palsy in a child

Septo-optic dysplasia (SOD), also called De Morsier’s syndrome, is a highly heterogeneous condition comprising a spectrum of central nervous system malformations that involves in various degrees the optic nerves, the hypothalamic–pituitary axis, and other midline structures such as the septum pellucidum and the corpus callosum. In a discrete number of cases, schizencephaly, agenesis of the corpus callosum or other cortical malformations are associated (SOD-plus). The authors present a 6-year-old boy with dyskinetic cerebral palsy (athetoid-dystonic subtype) associated with SOD-plus. Cranial magnetic resonance imaging (cMRI) revealed the total absence of septum pellucidum, optic nerve hypoplasia, hypoplasia of the corpus callosum and right occipital cortical dysplasia. The patient was diagnosed with septo-optic dysplasia-plus syndrome based on the cMRI findings. To the best of our knowledge, this is the first reported case in which defects of midline brain structures, like in SOD-plus, are associated with a significant hyperkinetic movement disorder such as dyskinesia.