REPORT OF A SUSPECTED CASE OF SEPTO-OPTIC DYSPLASIA AT THE GAFFRÉE E GUINLE UNIVERSITY HOSPITAL AND A BRIEF REVIEW OF ITS FINDINGS
DOI:
https://doi.org/10.36557/pbpc.v3i2.83Keywords:
Septo-optic dysplasia, Morsier syndrome, Septum pellucidum, Neonatology, NeuropediatricsAbstract
Introduction: Septo-optic dysplasia, a rare congenital condition, is defined by two out of three findings: 1) Midline brain defects, including agenesis of the septum pellucidum or corpus callosum; 2) Optic nerve hypoplasia; and 3) Endocrine deficiencies due to hypothalamic-pituitary abnormalities. Although genetic causes may be associated, most cases are sporadic and can be influenced by various environmental factors such as drug use, alcohol, and maternal age. Objective:To report a suspected case of septo-optic dysplasia and briefly review the clinical and imaging findings of the syndrome. Methods: Data were obtained through interviews, physical examination, expert opinions, complementary tests, and literature review. Final Considerations: This case sheds light on a rare disease that benefits from early diagnosis, as timely diagnoses can modify neurodevelopmental outcomes and life expectancy.
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Copyright (c) 2024 Matheus Lopes Lima Rocha, Bianca Rosa Leite, João Vitor Santana Cunha, Pedro Henrique De Carvalho Gomes
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