INTRODUCTION: Septo optic syndrome, described by De Morsier in 1956, consists in 
the hypoplasia of one or both optic nerves, mid line brain malformations and 
hypothalamohypophysial dysfunction, which is inconstant. It is an infrequent, 
but treatable, cause of hepatic and neurological damage, and it is important to 
obtain an early diagnosis and to begin hormone replacement therapy.
CASE REPORT: We report the clinical case of a female baby who was diagnosed 
early on as suffering from septo?optic dysplasia, after discovery of the 
existence of cholestatic jaundice. In our case the three components of the 
syndrome were present: hypothalamohypophysial dysfunction, bilateral hypoplasia 
of the optic nerves and brain malformations with dysplasia of the transparent 
septum. All this gives rise to complex clinical features and the predominance of 
hypernatraemic dehydration secondary to insipid diabetes, nystagmus and serious 
psychomotor retardation. Our patient died, as in other cases reported in the 
literature, from an episode of sudden death.
DISCUSSION: Despite the importance of an early diagnosis of this disorder, it is 
usually late. Most children who present hypopituitarism traits in the neonatal 
period are not diagnosed at that time, with the subsequent risk of death or 
brain damage. Some clinical findings, which appear early on and can provide 
clues which aid us to reach a diagnosis, are the appearance of episodes of 
hypoglycaemia in the neonatal period, the existence of micropenis and 
cryptorchidism with hypoplasic testes, jaundice or the appearance of clinical 
manifestations of insipid diabetes. Later on nystagmus and neurological symptoms 
may appear. The final diagnosis is performed through the use of neuroimaging 
techniques (CT or MRI) and hormonal studies.