[Pathognomonic chorioretinal lacunar lesions in an infant with Aicardi's syndrome].
نویسندگان
چکیده
CLINICAL CASE We report the case of an 81-day-old female infant who was brought to the Emergency Department because of a seizure. At 20 weeks of gestational age she was diagnosed to have agenesis of the corpus callosum, with this being confirmed later by magnetic resonance imaging. Ophthalmological examination of the fundus showed peripapillar chorioretinal lesions (lacunar chorioretinopathy) in both eyes. DISCUSSION Chorioretinal lacunar and retinal pigment epithelial abnormalities are the basis for the diagnosis of this syndrome.
منابع مشابه
Aicardi’s Syndrome: A Case Report YU-MING CHUANG HSIU-MEI WU JIING-FENG LIRNG
Aicardi’s syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an X-linked mutational event that is lethal in males. This paper presents a girl 3 years 8 months old with Aicardi's syndrome who received corticotropin therapy for intractable seizure...
متن کاملCallosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?
Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of Aicardi syndrome exhibit very slow development, even when seizures are eventually ...
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Aicardi syndrome is a severe congenital disorder characterised by infantile spasms, chorioretinal lacunae, and agenesis ofthe corpus callosum. We present the case of a 10-year-old girl whose symptoms included a poorly controlled seizure disorder, typical lacunar retinopathy, partial hypoplasia of the corpus callosum, and mild developmental delay. This case alerts ophthalmologists to the presenc...
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ورودعنوان ژورنال:
- Archivos de la Sociedad Espanola de Oftalmologia
دوره 82 5 شماره
صفحات -
تاریخ انتشار 2007