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Septo-optic Dysplasia Plus Syndrome

2018; Cureus, Inc.; Linguagem: Inglês

10.7759/cureus.3727

2168-8184

Alejandro Gutiérrez-Castillo, Amado Jiménez‐Ruiz, Melissa Chavez-Castillo, José Luis Ruíz‐Sandoval,

Birth, Development, and Health

Septo-optic dysplasia plus is a rare congenital syndrome characterized by the classic triad of optic nerve hypoplasia, hypothalamic-hypophyseal dysfunction, and midline abnormalities, with associated malformations of cortical development. Clinical manifestations include optic nerve disease, epilepsy, intellectual delay, and endocrine dysfunction. We present the case of an 18-year-old man with a history of seizures, growth hormone deficiency, and optic nerve disease that was diagnosed with septo-optic dysplasia plus syndrome with characteristic imaging findings.