SAT-112 - Delayed Diagnosis of Septo-Optic Dysplasia in A 16-Year-Old Female Presenting with Hypovolemic Shock: A Case Report

Background: Septo-optic dysplasia (SOD), or de Morsier syndrome, is a rare congenital disorder occurring in about 1 in 10,000 live births. It features optic nerve hypoplasia, midline brain abnormalities, and pituitary dysfunction. While 86% of cases are diagnosed by age 2, some diagnoses are delayed, posing life-threatening risks. We present a case of SOD diagnosed in a 16-year-old female who experienced hypovolemic shock, highlighting the risks of unrecognized adrenal insufficiency.

Case presentaion: A 16-year-old female with congenital horizontal nystagmus and mild cognitive delay presented with vomiting, diarrhea, and lethargy due to Salmonella gastroenteritis, leading to hypovolemic shock that required 4 liters of IV fluid resuscitation. Further history indicated primary amenorrhea. Physical examination revealed horizontal nystagmus and Tanner stage 3 sexual development, prompting a comprehensive endocrine evaluation.

Laboratory tests showed primary hypothyroidism and low baseline cortisol. High-dose ACTH stimulation testing revealed a suboptimal peak cortisol response of 11 mcg/dL, confirming secondary adrenal insufficiency. Luteinizing hormone, follicle-stimulating hormone, and estradiol levels were low-normal. MRI demonstrated ectopic posterior pituitary, bilateral optic nerve hypoplasia, and absent septum pellucidum, confirming SOD.

The patient began treatment with stress-dose hydrocortisone and levothyroxine, leading to significant clinical improvement and discharge with plans for long-term endocrine follow-up.

Discussion: This case highlights key points about SOD. The combination of nystagmus (present in 36% of SOD cases), developmental delay, and amenorrhea should prompt earlier investigation. Unrecognized adrenal insufficiency can be fatal during stress; a similar case involved a 20-year-old woman who died after gastroenteritis, autopsy revealing SOD features. Population-based studies indicate a 3.7-fold higher mortality risk in SOD patients compared to controls, with a median age of death at 4.6 years.

Conclusion: Septo-optic dysplasia can present with varied features, leading to delayed diagnosis into adolescence. Clinicians should maintain a high suspicion for SOD in patients with optic nerve disorders, developmental delay, or delayed puberty. Early recognition and treatment of endocrine deficiencies, particularly adrenal insufficiency, are crucial to prevent potentially fatal complications during stress.

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