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Aicardi syndrome: retrospective study of a series of seven case reports

J.A. Fernández-Ramos, E. López-Laso, R. Simón-De las Heras, R. Camino-León, P. Guerra-García, A. Camacho-Salas, M. Aguilar-Quintero, N. Núñez-Enamorado [REV NEUROL 2013;57:481-488] PMID: 24265141 DOI: https://doi.org/10.33588/rn.5711.2013341

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Volumen 57 | Number 11 | Nº of views of the article 21.079 | Nº of PDF downloads 1.238 | Article publication date 01/12/2013

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ABSTRACT

INTRODUCTION The Aicardi syndrome is a disorder presumably X-linked dominant, classically defined by the triad of agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms, with lethality in males.

PATIENTS AND METHODS Retrospective descriptive study of patients diagnosed with Aicardi syndrome over a period of 29 years in two tertiary pediatric hospitals.

RESULTS We found seven women that developed infantile spasms before 6 months of age, epileptic spasms persisting beyond infancy in two cases, a refractory symptomatic partial epilepsy in three patients, and well-controlled partial epilepsy in one girl. Six cases presented severe-profound mental retardation and moderate-severe in a girl. Two girls died at 2 and 6 years-old. In all patients neuroimaging studies showed agenesis of the corpus callosum, intracranial cysts and malformations of cortical development. Ophthalmological lesions were chorioretinal lacunae in seven cases, anophthalmia/microphthalmia in four girls and optic nerve coloboma in three patients. Other findings were congenital heart disease, costovertebral abnormalities, cervical lymphangioma and focal hypertrichosis.

CONCLUSIONS The Aicardi syndrome should be suspected in girls with infantile spasms and agenesis of the corpus callosum. It is necessary to rule out these ophthalmologic abnormalities, malformations of cortical development and intracranial cysts. The prognosis is poor due to its high mortality and its evolution to refractory epilepsy and profound mental retardation. KeywordsAgenesis of the corpus callosum Aicardi syndrome Chorioretinal lacunae Cortical developmental disorders Infantile spasms Refractory epilepsy CategoriesEpilepsias y síndromes epilépticos Técnicas exploratorias

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Original

Aicardi syndrome: retrospective study of a series of seven case reports