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Inferior sectoral chorioretinopathy in two patients with novel heterozygous mutations.
Ophthalmic Genet
January 2025
Departments of Medical Genetics and Ophthalmology & Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.
Background: Pathogenic variants in , a kinesin family gene, cause MCLMR and FEVR. In MCLMR, chorioretinal atrophy is present in the majority of cases and can be a helpful diagnostic sign.
Cases: We present the cases of two patients with chorioretinal atrophy and microcephaly who carry novel mutations.
Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.
Orphanet J Rare Dis
December 2024
Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, Clinic 1, Medical Faculty of Heidelberg, Heidelberg University, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Article Synopsis
- - Aicardi syndrome is a rare condition primarily affecting girls, characterized by infantile spasms, chorioretinal defects, and agenesis of the corpus callosum, with unknown causes and unclear treatment strategies.
- - The study analyzed 245 cases, revealing that the average age for symptoms to appear was around 2.2 months, with a diagnostic delay of about 1 month and mortality rates of 6% and 17% at 1 and 5 years, respectively.
- - The findings provide important clinical endpoints and natural history data, which could enhance disease awareness and support future research and clinical trials for Aicardi syndrome.
Background: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is a rare autosomal dominant disease caused by mutations in KIF11 which disrupt EG5 protein function, impacting the development and maintenance of retinal and lymphatic structures due to its expression in the retinal photoreceptor cilia. The primary ocular finding in MCLMR is chorioretinopathy. Additional features can include microphthalmia, angle-closure glaucoma, persistent hyperplastic primary vitreous, cataract, pseudo-coloboma, persistent hyaloid artery, and myopic or hypermetropic astigmatism.
View Article and Find Full Text PDFTeaching Neuroimage - Aicardi Syndrome: A Triad of Epileptic Spasms, Agenesis of Corpus Callosum, and Chorio-Retinal Lacunae.
Neurol India
November 2023
Department of Pediatrics, Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, AIIMS, New Delhi, India.
Aicardi syndrome in a Nigerian female child: A case report and literature review of a rare neuro-developmental disorder from North-Western Nigeria.
J Natl Med Assoc
October 2023
Deparment of Paediatrics, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria.
Article Synopsis
- - Aicardi syndrome is a rare condition linked to X-linked dominance, characterized by infantile spasms, agenesis of the corpus callosum, and chorio-retinal abnormalities.
- - A case study details a female infant who presented with infantile spasms at two months, found to have complete agenesis of the corpus callosum and specific eye findings; she was diagnosed with Aicardi syndrome.
- - By 18 months, her seizures decreased significantly, but she developed right-sided spastic hemiparesis; treatment included phenobarbital and physiotherapy, emphasizing the need for Aicardi syndrome to be considered in similar pediatric cases.
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