Swami Anjana, Sharma Monish, VanDyke Lindsey
Internal Medicine, Texas College of Osteopathic Medicine, Fort Worth, USA.
Radiology, Texas College of Osteopathic Medicine, Fort Worth, USA.
Cureus. 2025 Apr 15;17(4):e82329. doi: 10.7759/cureus.82329. eCollection 2025 Apr.
Septo-optic dysplasia (SOD) is a rare disorder that affects early brain development. It is characterized and diagnosed by the presence of at least two out of the following: optic nerve hypoplasia, agenesis of the septum pellucidum, and pituitary hypoplasia. Currently, the cause of the disease is largely thought to be sporadic and involves both genetic and environmental factors. We report the case of a 29-year-old female patient who was diagnosed with SOD after years of diagnostic investigation as well as the emergence of multiple endocrine pathologies related to her SOD. The patient is currently being treated with a variety of hormones to manage her endocrinopathies and is predicted to have a favorable prognosis.
视隔发育不良(SOD)是一种影响早期大脑发育的罕见疾病。其特征和诊断依据为具备以下至少两项:视神经发育不全、透明隔缺如以及垂体发育不全。目前,该疾病的病因在很大程度上被认为是散发性的,涉及遗传和环境因素。我们报告了一例29岁女性患者的病例,该患者经过多年诊断性检查后被诊断为SOD,并且出现了与她的SOD相关的多种内分泌病变。该患者目前正在接受多种激素治疗以控制其内分泌疾病,预计预后良好。