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Published on: June 20, 2018
The syndrome of septo-optic dysplasia in Saudi children
Bassam S Bin-Abbas1, Abdullah A Al-Ashwal, Ibrahim A Al-Alwan
1Department of Pediatrics, MBC 58, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia. benabbas@kfshrc.edu.sa
Insights
Septo-optic dysplasia in Saudi children often involves multiple pituitary hormone deficiencies, affecting vision and growth. Early diagnosis and hormonal replacement are crucial for managing this life-threatening condition.
Area of Science:
- Pediatric Endocrinology
- Neuro-ophthalmology
- Developmental Pediatrics
Background:
- Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve hypoplasia, midline brain abnormalities, and pituitary dysfunction.
- Hypothalamic hypopituitarism, a common complication of SOD, necessitates comprehensive endocrine evaluation and management.
- Understanding the multifaceted clinical, ophthalmological, endocrinological, and radiological features of SOD is vital for timely intervention.
Purpose of the Study:
- To delineate the clinical spectrum of septo-optic dysplasia in a cohort of Saudi children.
- To characterize the associated ophthalmological, endocrinological, and radiological findings.
- To emphasize the importance of early diagnosis and management of associated pituitary hormone deficiencies.
Main Methods:
- Retrospective analysis of 10 Saudi children diagnosed with septo-optic dysplasia.
- Comprehensive ophthalmological and endocrinological evaluations, including hormonal assays for pituitary function.
- Neuroradiological assessments using MRI or CT scans of the brain.
Main Results:
- All 10 children presented with multiple pituitary hormone deficiencies, including growth hormone, ACTH, and TSH deficiencies.
- Ophthalmological findings included bilateral optic nerve hypoplasia, pendular nystagmus, and impaired vision.
- Neuroradiological findings revealed variable midline brain abnormalities such as absent septum pellucidum, pituitary hypoplasia, and pituitary stalk abnormalities.
Conclusions:
- Septo-optic dysplasia is frequently associated with significant hypothalamic hypopituitarism, impacting both anterior and posterior pituitary function.
- Early identification of SOD and its endocrine complications is critical due to potentially life-threatening hormonal imbalances.
- Prompt hormonal replacement therapy is essential for optimizing outcomes in affected children.
Objective:
To describe the clinical, ophthalmological, endocrinological and radiological features of 10 Saudi children with the syndrome of septo-optic dysplasia and hypothalamic hypopituitarism.
Methods:
All patients underwent complete ophthalmological and endocrinological evaluation at the Pediatric Endocrine Clinics, King Faisal Specialist Hospital and Research Center and King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia, from October 1999 through to May 2004. The hormonal evaluation included growth hormone, adrenocorticotrophic hormone, thyroid stimulating hormone, gonadotropin and anti diuretic hormone testing, and the neuroradiological assessment included brain magnetic resonance imaging or computed tomogram scanning, or both.
Results:
The current age of patients ranged from 18- months to 5-years. The mean age of initial presentation for endocrine evaluation was 14-months. Hormonal studies indicated that all children had multiple pituitary hormone deficiencies (2 or more of the pituitary hormones were deficient). Ten children had growth hormone deficiency, 8 had thyroid stimulating hormone deficiency, 8 had adrenocorticotrophic hormone deficiency, 2 children were suspected to have gonadotropin deficiency and central diabetes insipidus was present in one patient. Pendular nystagmus and impaired vision were common initial signs. All children had bilateral optic nerve hypoplasia. Neuroradiologic findings were variable. Eight children had absent septum pellucidum, 3 had pituitary gland hypoplasia, 2 had pituitary stalk dysplasia (pituitary stalk was either attenuated or not visualized), 2 had absent corpus callosum and one had absent posterior pituitary high intensity signal. All patients were replaced with appropriate hormonal replacement therapy. Two male children had micropenis which responded to testosterone therapy.
Conclusion:
The syndrome of septo-optic dysplasia is commonly associated with hypothalamic hypopituitarism including anterior and posterior pituitary hormonal deficiencies. Early diagnosis of this syndrome is critical as the hormonal deficiencies can be life threatening.
