Revista Cubana de Pediatría
On-line version ISSN 1561-3119
VARGAS DIAZ, José et al. Displasia septo-óptica o síndrome DeMorsier: Presentación de 1 caso y revisión bibliográfica. Rev Cubana Pediatr [online]. 2000, vol.72, n.4, pp. 306-307. ISSN 1561-3119.
The septo-optic dysplasia or DeMorsier's syndrome is a rare congenital disease consisting in hypoplasia of one or more frequently of both optic nerves, absence of septum pellucidum and hormone deficiencies. Clinical case: A female infant of 6 months of age receives attention because the girl had no visual interest and was not able to hold up her head. Her mother had low body weight and suffered from urinary infection in the last trimester of pregnancy. During the first 2 months of life she had fever of up to 38ºC and it was not possible to identify any infectious process as its cause. Generalized hypotonia of axial predominance with osteotendinous reflexes, horizontal nystagmus, convergent strabismus, absence of visuopalpebral reflex and, bilaterally, in the fundus of the eye small papillae with double contour image. The cerebral ultrasound and the computerized axial tomography (CAT) showed absence of the septum pellucidum. The osteal age corresponded with 4 months and it was found a deficiency of the growth hormone with values of 4 ng/L. The clinical manifestations of this patient matched with the classic triad of DeMorsier's syndrome, hypoplasia of the optic nerve, agenesia of the septum pellucidum and hormone deficiencies, in this case of the growth hormone.An updating of this rare disease is presented.
Keywords : OPTIC NERVE DISEASES; SEPTUM PELLUCIDUM; ESOTROPIA; SOMATROPIN [deficiency].