Septo-optic dysplasia: A case report and systematic literature review

Abstract

Septo-optic dysplasia, also referred to as ‘De-Morsier syndrome’, is a rare congenital disorder characterized by a combination of midline brain abnormalities, optic nerve hypoplasia (ONH), and hypothalamic pituitary dysfunction. In this paper, we present typical magnetic resonance imaging (MRI) findings and clinical manifestations of septo-optic dysplasia in a 3-year-old male patient, followed up by a literature review to highlight the crucial role of imaging, especially MRI, in the early diagnosis of this condition. Early clinical suspicion, along with radiological imaging, is crucial for a prompt diagnosis and effective management of patients with this condition.