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  • Title: Septo-optic Dysplasia Plus Syndrome.
    Author: Gutierrez-Castillo A, Jimenez-Ruiz A, Chavez-Castillo M, Ruiz-Sandoval JL.
    Journal: Cureus; 2018 Dec 13; 10(12):e3727. PubMed ID: 30800538.
    Abstract:
    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.
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