Atypical Aicardi's syndrome on two sisters not twins

ABSTRACT

Aicardi's syndrome is a rare genetic disorder characterized by heterogeneity of clinical findings and prognosis. The characteristic features include infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This syndrome is seen almost exclusively in female and is often sporadic. However, some familial cases were reported in the literature. The prognosis is unpredictable. It is grave in most of cases with severe psychomotor retardation. The authors report two sisters not twins, from a consanguineous familily with atypical Aicardi syndrome diagnosed at 2 months of age. Clinical feautures were infantile spasms, partial agenesis of the corpus callosum and atypical ophthalmologic abnormalities. Evolution was marked by severe psychomotor retardation, scoliosis and severe recurrent pneumonia entailing the death of one of the patients at 3 years of age