Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case‐series
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6085
Abstract: To characterize a suggestive prenatal imaging pattern of Aicardi syndrome using ultrasound and MR imaging. read more here.
Keywords: aicardi syndrome; prenatal diagnosis; imaging pattern;
Aicardi syndrome in a 7-month-old girl with tonic seizures and skeletal defects: A case report
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Medicine and Surgery"
DOI: 10.1016/j.amsu.2021.102447
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,… read more here.
Keywords: old girl; month old; aicardi syndrome; case ... See more keywords
High-dose Chemotherapy is Efficacious and Well Tolerated in a Toddler With Aicardi Syndrome and Malignant Sacrococcygeal Teratoma.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001091
Abstract: Aicardi syndrome (AS) is a rare neurodevelopmental disorder, predominantly seen in female individuals, which appears to have an increased risk of both benign and malignant neoplasia. We report the case of a child with AS… read more here.
Keywords: chemotherapy; aicardi syndrome; dose chemotherapy; high dose ... See more keywords
Ketogenic Diet Therapy for Epilepsy Associated With Aicardi Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Child Neurology"
DOI: 10.1177/08830738211023335
Abstract: Introduction: Aicardi syndrome is a rare neurodevelopmental disorder associated with epilepsy in females. Ketogenic diet therapy represents a possible nonpharmacologic treatment in Aicardi syndrome patients. Methods: All patients with Aicardi syndrome seen at Johns Hopkins… read more here.
Keywords: epilepsy; ketogenic diet; aicardi syndrome; diet therapy ... See more keywords
Imaging Similarities Between Oral-Facial-Digital Syndrome Type 1 and Aicardi Syndrome: Prenatal and Postnatal Magnetic Resonance Imaging (MRI) Findings in 4 Patients
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Child Neurology"
DOI: 10.1177/08830738221147372
Abstract: Prenatal identification by magnetic resonance imaging (MRI) of callosal anomalies, particularly with accompanying intracranial abnormalities, poses a challenge for accurate prognostication and fetal counseling as outcome can vary widely depending on underlying etiology. In female… read more here.
Keywords: magnetic resonance; imaging mri; resonance imaging; aicardi syndrome ... See more keywords
Case Report: Subtotal Hemispherotomy Modulates the Epileptic Spasms in Aicardi Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.683729
Abstract: The mechanism of epileptic spasms (ES) in Aicardi syndrome (AS) remains obscure. We compared intraoperative high-frequency oscillations (HFOs) and phase-amplitude coupling (PAC) before and after subtotal hemispherotomy in a 3-month-old girl with drug-resistant ES secondary… read more here.
Keywords: aicardi syndrome; hemispherotomy; epileptic spasms; spasms aicardi ... See more keywords