Journal francais d'ophtalmologie · 2012
[Aicardi syndrome with unilateral ocular involvement].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Tabary A, Vangheluwe V, Defoort-Dhellemmes S, Drumare-Bouvet I
Аннотация
INTRODUCTION: Aicardi syndrome is a severe congenital disorder affecting females and characterized by a triad of symptoms, including infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae.
OBSERVATIONS: This retrospective study demonstrates that three out of eight children followed at CHRU of Lille for Aicardi syndrome exhibited unilateral chorioretinal lacunae. For these patients, the condition was diagnosed prior to 6months based on abnormal fundus exam as well as neurological and radiological (MRI) abnormalities.
DISCUSSION: These patients with Aicardi syndrome have unilateral ocular abnormalities. Moreover, the differential diagnosis must be considered in the presence of microcephaly, chorioretinal dysplasia and mental retardation.
CONCLUSION: Unilateral chorioretinal lacunae do not rule out the diagnosis of Aicardi syndrome in the presence of psychomotor retardation and agenesis of the corpus callosum on magnetic resonance imaging.
OBSERVATIONS: This retrospective study demonstrates that three out of eight children followed at CHRU of Lille for Aicardi syndrome exhibited unilateral chorioretinal lacunae. For these patients, the condition was diagnosed prior to 6months based on abnormal fundus exam as well as neurological and radiological (MRI) abnormalities.
DISCUSSION: These patients with Aicardi syndrome have unilateral ocular abnormalities. Moreover, the differential diagnosis must be considered in the presence of microcephaly, chorioretinal dysplasia and mental retardation.
CONCLUSION: Unilateral chorioretinal lacunae do not rule out the diagnosis of Aicardi syndrome in the presence of psychomotor retardation and agenesis of the corpus callosum on magnetic resonance imaging.