INTRODUCTION: Septo-optic dysplasia (De Morsier syndrome) is defined as the 
association between optic nerve hypoplasia, midline central nervous system 
malformations and pituitary dysfunction.
CASE REPORT: Third child born to nonconsanguineous parents, female, adequate 
pre-natal medical care, cesarean term delivery due to breech presentation, Apgar 
score 3 at the first minute and 8 at 5 minutes, symptomatic hypoglycemia at 18 
hours. Neurological follow-up identified a delay in acquisition of motor and 
language developmental milestones. Epileptic generalized seizures began at 12 
months and were controlled with phenobarbital. EEG was normal. MRI revealed 
agenesis of the pituitary stalk, hypoplasia of the optic chiasm and 
periventricular nodular heterotopia. Ophthalmologic evaluation showed bilateral 
optic disk hypoplasia. Endocrine function laboratory tests revealed primary 
hypothyroidism and hyperprolactinemia.
CONCLUSION: The relevance of this case report relies on its uniqueness, since 
periventricular heterotopia had not been described in association with 
septo-optic dysplasia until 2006.