[Aicardi's syndrome. Report of 2 cases].
Aicardi's syndrome is a clinical entity characterized by agenesis of the corpus callosum, severe mental subnormality, seizures (most frequently spasms in flexion), characteristic electroencephalographic changes (burst-suppression pattern), typical chorioretinal lacunae, present only in females. Other associated findings are rib and vertebral dysplasias; frequently found are cortical heterotopias. This syndrome is of hereditary origin, now considered a probable X-linked dominant trait with male lethality. The authors describe two cases of this syndrome with the full clinical picture.
D061085:Agenesis of Corpus Callosum; D004569:Electroencephalography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D012164:Retinal Diseases; D012640:Seizures; D013036:Spasms, Infantile; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Síndrome de Aicardi. Relato de dois casos.