Abstract

COSTA, Paula Piccoli da; HAAS, Priscilla de Cássia Silva; YAMASATO, Elson  and  QUILIAO, Maria Eulina. Aicardi's syndrome: a description of two cases. Arq. Bras. Oftalmol. [online]. 2004, vol.67, n.2, pp. 341-343. ISSN 0004-2749.  http://dx.doi.org/10.1590/S0004-27492004000200028.

Aicardi's syndrome is thought to be an X-linked dominant disorder. Females are exclusively affected, the disorder being lethal in males. This syndrome is characterized by infantile spasms, agenesis of the corpus callosum and ocular lesions. Clinically it presents as severe mental retardation, severe limitation of motor development and of language, with a prognosis of survival for only a few months or years. We present two cases of this uncommon syndrome and describe the clinical symptoms and signs, and prognosis.

Keywords : Syndrome [diagnosis]; Spasms, infantile; Retina [abnormalities]; Choroid [abnormalities]; Corpus callosum [abnormalities].