Aicardi syndrome is a rare neurological disorder diagnosed at an early age with the help from radiology imaging. Therefore, the sooner it is diagnosed, the sooner the interventions can be beneficial. However, as with ...Aicardi syndrome is a rare neurological disorder diagnosed at an early age with the help from radiology imaging. Therefore, the sooner it is diagnosed, the sooner the interventions can be beneficial. However, as with mood disorders, it too has a spectrum of symptoms and can cause delays in treatments. In the following case report, a 26-year-old female’s neurological symptoms were misdiagnosed as symptoms of Schizophrenia. Through this case report, the goal is to highlight the pathway to diagnose and treat an individual.展开更多
Aicardi syndrome is a rare genetic disease characterized by a characteristic classical trio of neurological clinical abnormalities(spasms),agenesis of the corpus callosum and ophthalmological abnormalities(chorioretin...Aicardi syndrome is a rare genetic disease characterized by a characteristic classical trio of neurological clinical abnormalities(spasms),agenesis of the corpus callosum and ophthalmological abnormalities(chorioretinal lacunae).The diagnosis can be suspected by prenatal ultrasound with color Doppler identifying the agenesis of the corpus callosum.Usually,the diagnosis is confirmed in the neonate period by transfontanellar ultrasound and ophthalmological examination.We present a case of newborn with Aicardi syndrome,being the transfontanellar identified partial dysgenesis of the corpus callosum and a cyst in the inter-hemispheric fissure.Ophthalmological examination showed bilateral chorioretinal lacunae.展开更多
文摘Aicardi syndrome is a rare neurological disorder diagnosed at an early age with the help from radiology imaging. Therefore, the sooner it is diagnosed, the sooner the interventions can be beneficial. However, as with mood disorders, it too has a spectrum of symptoms and can cause delays in treatments. In the following case report, a 26-year-old female’s neurological symptoms were misdiagnosed as symptoms of Schizophrenia. Through this case report, the goal is to highlight the pathway to diagnose and treat an individual.
文摘Aicardi syndrome is a rare genetic disease characterized by a characteristic classical trio of neurological clinical abnormalities(spasms),agenesis of the corpus callosum and ophthalmological abnormalities(chorioretinal lacunae).The diagnosis can be suspected by prenatal ultrasound with color Doppler identifying the agenesis of the corpus callosum.Usually,the diagnosis is confirmed in the neonate period by transfontanellar ultrasound and ophthalmological examination.We present a case of newborn with Aicardi syndrome,being the transfontanellar identified partial dysgenesis of the corpus callosum and a cyst in the inter-hemispheric fissure.Ophthalmological examination showed bilateral chorioretinal lacunae.
