Purpose or Case Report: Septo-optic dysplasia is a rare condition with an estimated prevalence of 1 in 10,000-50,000 live births. Characteristic features include optic nerve hypoplasia, septum pellucidum absence, and hypothalamic-pituitary dysfunction; at least two features are needed to make the diagnosis. The disease has phenotypic variation, with only 30% of patients exhibiting the full triad of findings. In newborns, the disease can be suspected in the setting of hypoglycemia, jaundice, microphallus, and ocular abnormality. We present multiple cases of septo-optic dysplasia.

Case 1: A newborn term female was found to have hyperbilirubinemia and hypoglycemia shortly after birth. Subsequent MRI brain without contrast showed right temporal open lip schizencephaly, a large right middle cranial fossa arachnoid cyst, and dysplasia of the bilateral optic nerves. Upon follow-up, the patient reached her growth milestones but had vision deficits.

Case 2: A 12-year-old boy presented with concern for delayed growth. Per his parents, he had a remote history of septo-optic dysplasia, but outside imaging was not available for review. Subsequent MRI brain and orbits with and without contrast showed open-lip right frontal schizencephaly, bilateral hypoplastic optic nerves, a hypoplastic pituitary gland with an ectopic posterior pituitary, and a left middle cranial fossa arachnoid cyst. X-ray of the hand and wrist showed a 5-year delayed skeletal age. Lab values were consistent with panhypopituitarism, and the patient was started on growth hormone. Follow up imaging when the patient was 18 years old showed congruent skeletal and chronological age.

Case 3: A 14-year-old boy who had been wearing glasses since he was 4 years old presented for worsening vision. On fundoscopic exam, bilateral optic nerve hypoplasia was noted. Follow-up MRI brain with contrast showed an absent septum pellucidum and bilateral optic nerve hypoplasia without brain parenchymal abnormality. The patient was referred to endocrinology for further workup.

Overall, septo-optic dysplasia remains a rare condition with variable phenotypic expression and morbidity for patients. Since the disease is part of a larger spectrum, it should remain on the differential for young patients with pituitary dysfunction and/or vision abnormalities. Timely diagnosis allows for faster treatment and appropriate management of hypopituitarism and brain parenchymal abnormalities.
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