De Morsier´s Syndrome

Abstract

De Morsier syndrome dysplasia septo-optic (DSO), was described by De Morsier in 1956, who recognized the association between Agenesis or hypoplasia of the septum pellucidum and hypoplasia of the optic nerve and CHIASM and optic tracts. You may be associated with dysfunction hypothalamic-pituitary. The form of presentation is sporadic and familial cases are rare, although it has been postulated the possibility of autosomal recessive inheritance. The neurological picture associated with the syndrome is variable. It occurs in some patients with normal intelligence and no neurologic deficit. Disorders of learning and mental retardation are related to abnormalities of the septum pellucidum. Seizures are frequently described demonstrations.  Objectives. Identify signs and symptoms of De Morsier syndrome in 6-year-old Guatemalan girl. Patient mestizo, of six years, a history of progressive muscular dystrophy his father, goes to consultation by nystagmus, strabismus, torticollis buffer and delay of neurodevelopmental, with a correct weight increase. Physical examination palpebral telangiectasias, vertical nystagmus, deviation from the head to the left side. Fundus: pronounced temporal pallor of both discs, atrophy macular foveal, venous tortuous generalized dull. Optic nerve hypoplasia. Computerized axial tomography shows absence of septum pellucidum. Discussion. Progressive muscular dystrophy and De Morsier syndrome have a low incidence in the population, so the presence of the same father and daughter should be designated, there is no explanation to justify the finding, not found, previous reports in the lit erature pointing it.