Septo-optic dysplasia/ Morsier’s syndrome; a disease to be suspected

Abstract

Septo-optic dysplasia (SOD) or Morsier syndrome is a rare congenital malformation of infantile neurodevelopment with systemic anatomical and functional involvement. It is characterized by optic nerve hypoplasia, midline brain malformation, and hypothalamic-pituitary axis hypoplasia. The spectrum of clinical manifestations is very wide, from ophthalmological problems to endocrinological disorders that determine the severity and prognosis of these patients. The diagnosis is fundamentally clinical, based on an anamnesis and systematic clinical examination, supported by complementary tests for the study of hormonal deficits and imaging tests that objectify structural malformations. SOD has no cure; however, close follow-up focused on improving comorbidities through hormone replacement, neuropsychological support, and visual correction is necessary to improve the patient’s quality of life. Its low incidence and the breadth of forms of presentation require the knowledge and multidisciplinary approach of specialists in Pediatrics, Neurology, Endocrinology and Ophthalmology, among others. We present a descriptive case of this disease and its management.