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Septo-optic Dysplasia Plus Syndrome.
Alejandro Gutierrez-Castillo1, Amado Jimenez-Ruiz2, Melissa Chavez-Castillo3
1Miscellaneous, Instituto Tecnológico Y De Estudios Superiores De Monterrey, Monterrey, MEX.
Cureus
|February 26, 2019
Summary
Septo-optic dysplasia plus is a rare congenital syndrome affecting optic nerves, endocrine function, and brain development. This case highlights characteristic imaging findings in an 18-year-old male patient.
Area of Science:
- Neurology
- Endocrinology
- Genetics
Background:
- Septo-optic dysplasia plus is a rare congenital disorder.
- It involves optic nerve hypoplasia, hypothalamic-pituitary dysfunction, and midline brain abnormalities.
- Cortical development malformations are also associated with this syndrome.
Observation:
- Clinical features include optic nerve disease, epilepsy, intellectual delay, and endocrine dysfunction.
- A rare case of septo-optic dysplasia plus was diagnosed in an 18-year-old male.
- The patient presented with a history of seizures, growth hormone deficiency, and optic nerve disease.
Findings:
- The diagnosis was confirmed by characteristic imaging findings.
- This case underscores the diverse clinical spectrum of septo-optic dysplasia plus.
- The syndrome presents with a triad of optic nerve hypoplasia, hypothalamic-pituitary axis dysfunction, and midline central nervous system abnormalities.
Implications:
- Early diagnosis and management are crucial for patients with septo-optic dysplasia plus.
- Understanding the neurodevelopmental and endocrine aspects is vital.
- Further research into the genetic and developmental mechanisms is warranted.
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