Two cases of septo-optic dysplasia-plus syndrome with epilepsy and mirror hand movements

Abstract Septo-optic dysplasia (SOD) is a rare developmental anomaly first described by Reeves. It is a heterogeneous condition defined loosely by any combination of optic nerve hypoplasia, pituitary hypoplasia, and midline neuroradiological malformations. The etiology of SOD remains unclear. SOD-plus is the association of SOD and disorders of neuronal organization. Herein we describe two patients with SOD-plus syndrome characterized by SOD with epilepsy and multiple skeletal and central nervous system abnormalities. These two cases indicate that SOD results from disorders in multiple developmental stages. In addition, this is the first report of SOD-plus syndrome with mirror hand movements. Advances in neuroradiological evaluation techniques enable the detection of associated central nervous system abnormalities that can be special characteristics for the diagnosis of the spectrum of SOD-plus.