Clinical, laboratory and neuroimaging profile of patient's cohort with septo-optic dysplasia treated at a pediatric university hospital.

Objectives: Septo-optic dysplasia (SOD) is a relatively rare clinical condition. However, there has been a significant increase in its incidence over the years. Diagnosis is clinical and made when there are at least 2 components of the classic triad: Optic nerve hypoplasia (ONH), midline malformation, and pituitary dysfunction. This study aims to describe the clinical and complementary exam characteristics of patients with SOD.

Methods: A retrospective study of review of medical records of 48 patients cohort (24 female) with SOD followed to 2023.

Results: The average age at diagnosis was 3.90 ± 3.85 years. Maternal age was ≤ 25 years at the time of delivery in 50% (24/48) of cases. Visual and developmental impairment was observed in 21 (43.7%) and nystagmus in 15 patients. Fourteen of them developed short stature. Regarding the diagnostic criteria for SOD: 92.6% (38/41) had ONH (78.9% bilaterally), 95.3% (41/43) had structural midline abnormalities, 85.7% (24/28) had hypothalamic-pituitary region alterations, and 73% had at least one hormonal deficiency, of which 2/3 had multiple pituitary dysfunctions. The most frequent deficiencies were thyroid-stimulating hormone and growth hormone, and the average age at diagnosis of the first dysfunction was 4.25 ± 3.71 years.

Conclusion: Clinical manifestations that most led to early suspicion were developmental delay, nystagmus and visual impairment. More than 1/3 of the patients had the complete triad and 2/3 developed multiple pituitary deficiencies, with TSH deficiency being the most prevalent followed by GH deficiency. Patients with ONH or midline structural changes should undergo endocrine evaluation.