Aicardi syndrome in a 7-month-old girl with tonic seizures and skeletal defects: A case report

Abstract

Introduction and importance: Aicardi syndrome (AS) is a rare genetic syndrome characterized by a triad of features: agenesis or hypogenesis of corpus callosum, chorioretinal lacunae, and infantile spasms, along with other neurodevelopmental, ocular, craniofacial, gastrointestinal, and musculoskeletal disorders. The precise etiology of AS is unknown, and establishing a diagnosis is challenging since it is an extremely rare syndrome and may mimic other congenital neurological defects. Case presentation A 2-month-old girl was brought to our hospital, she developed multiple episodes of generalized spasticity with hyperflexion of upper and lower extremities on trunk (tonic seizure), with fast jerking movements of the eye, with signs of Psychomotor Development delay. Clinical discussion Ophthalmic examination showed bilateral medial strabismus without nystagmus, Retinal examination showed bilateral small peripapillary well-circumscribed chorioretinal lacunae with hyperpigmented borders, thoracic spine x-ray (AP view) showed hemivertebrae and loss of height in the 7th and 8th thoracic vertebral body. Magnetic Resonance Imaging (MRI) revealed grey matter heterotopia, underdevelopment of the left operculum, hypogenesis of the corpus callosum, hypogenesis of inferior vermis, and multiple cysts with peripheral enhancing. Eventually, the diagnosis of AS is confirmed by the results of radiological imaging and ophthalmology exam. Conclusion In this paper, we report a case of Aicardi syndrome diagnosed in a 7-month-old girl with frequent tonic seizures. We report this case to highlight that Aicardi syndrome should be considered in the differential diagnosis in cases of frequent tonic seizures with abnormal findings on retinal examination and characteristic findings on MRI.

Síndrome de Aicardi: revisión bibliográfica

“…El diagnóstico se basa en las manifestaciones clínicas, exploración oftalmológica y los hallazgos (2,6) en neuroimagen .…”

“…El pronóstico de este síndrome varía en función de las anomalías a nivel del sistema nervioso central, así como en función del resto de anomalías asociadas. La esperanza de vida puede variar desde meses a (2,6) años en función de los hallazgos encontrados .…”

Aicardi syndrome – case report and literature review

“…The main features of this syndrome include epileptic spasms with a tendency of progression, agenesis or hypogenesis of the corpus callosum (CC) and distinctive chorioretinal lacunae. Moreover the presence of all three symptoms is not necessarily needed for diagnosis [1,3,8,9]. Chorioretinal lacunae are defects in photosensitive tissue at the back of the eye [8], which can be confirmed by optical coherence tomography (OCT) [10].…”

“…Moreover the presence of all three symptoms is not necessarily needed for diagnosis [1,3,8,9]. Chorioretinal lacunae are defects in photosensitive tissue at the back of the eye [8], which can be confirmed by optical coherence tomography (OCT) [10]. Most pediatric patients with AS develop normally up to the age of 3 months, and then the first symptoms, such as developmental delay and seizures, begin to occur [8].…”

“…Chorioretinal lacunae are defects in photosensitive tissue at the back of the eye [8], which can be confirmed by optical coherence tomography (OCT) [10]. Most pediatric patients with AS develop normally up to the age of 3 months, and then the first symptoms, such as developmental delay and seizures, begin to occur [8]. Optic nerve abnormalities are also characteristic, such as hypoplasia, which in many cases lead to poor vision [9].…”