[Septo-optic dysplasia (Morsier's syndrome): a case report]

We report the case of an infant with septo-optic dysplasia, or Morsier's syndrome, which is a condition affecting the central nervous system that can only be confirmed by means of neuroimaging. This syndrome involves hypoplasia of one or both optic nerves, absence of septum pellucidum, agenesis of the corpus callosum, cerebellar atrophy, ventricular dilatation and brain cysts, together with ectopic, aplastic or hypoplastic neurohypophysis.

It is an infrequent disease and its causation is uncertain, although the predominant hypothesis suggests a genetic foundation. The mechanism by which it is transmitted by inheritance is unknown. The age of the mother is characteristically low; it is known that over half the children affected by this condition were born to mothers below the age of 20. It may be accompanied by liver damage and it is essential to establish a diagnosis and treatment as early as possible. Prognosis is general favourable.