Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Aicardi syndrome: case report].

J A Bastos1, M A Borges, R Albuquerque

  • 1Serviço de Neurologia Infantil, Faculdade de Medicina Rio Preto, São José do Rio Preto, SP, Brasil.

Arquivos De Neuro-Psiquiatria
|July 19, 2001
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The Effectiveness of Platelet Rich Fibrin in Alveolar Ridge Reconstructive or Guided Bone Regenerative Procedures: A Systematic Review and Meta-Analysis.

Journal of dentistry·2024
Same author

The association between vitamin D binding protein levels and periodontal status: A systematic review.

Journal of periodontal research·2024
Same author

Assessment of the quality of oral biopsy procedure videos shared on YouTube.

Oral diseases·2023
Same author

Optimization of chemical solution concentration and exposure time in the alkaline pretreatment applied to sugarcane bagasse for methane production.

Environmental technology·2022
Same author

An observational retrospective study of odontogenic cyst´s and tumours over an 18-year period in a Portuguese population according to the new WHO Head and Neck Tumour classification.

Medicina oral, patologia oral y cirugia bucal·2020
Same author

IMMPACT-recommended outcome measures and tools of assessment in burning mouth syndrome RCTs: an international Delphi survey protocol.

Trials·2020
Same journal

Prevalence and predictors of low bone mineral density in Myasthenia gravis.

Arquivos de neuro-psiquiatria·2026
Same journal

Hypochondriasis, somatic amplification, and pain beliefs in patients with medication overuse headache.

Arquivos de neuro-psiquiatria·2026
Same journal

Ozzy Osbourne and Parkinson's disease: from darkness to awareness.

Arquivos de neuro-psiquiatria·2026
Same journal

The weight of genotype on the clinical presentation of COQ7-related hereditary motor axonal neuropathy: a case series and literature review.

Arquivos de neuro-psiquiatria·2026
Same journal

Rituximab as a sustainable high-efficacy solution for multiple Sclerosis in Brazil.

Arquivos de neuro-psiquiatria·2026
Same journal

Reply to: "Sleep quality is influenced by multiple factors and cannot be reduced to the volume of pineal gland calcification".

Arquivos de neuro-psiquiatria·2026
See all related articles

Aicardi syndrome, a rare genetic disorder, was diagnosed in a 2-month-old female infant. The case highlights key neurological and ocular symptoms, including infantile spasms and chorioretinal lacunae.

Area of Science:

  • Neurology
  • Genetics
  • Ophthalmology

Background:

  • Aicardi syndrome is a rare, severe neurological disorder primarily affecting females.
  • It is characterized by a specific triad of symptoms: infantile spasms, agenesis of the corpus callosum, and retinal abnormalities.

Observation:

  • A 2-month-old female presented with infantile spasms and significant ocular abnormalities.
  • Diagnostic imaging revealed agenesis of the corpus callosum, often termed 'split brain'.
  • Ocular examination identified characteristic chorioretinal lacunae.

Findings:

  • The patient was diagnosed with Aicardi syndrome based on the presence of key clinical and neuroimaging features.
  • The combination of infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae confirmed the diagnosis.

Related Experiment Videos

Implications:

  • This case underscores the importance of early recognition of Aicardi syndrome for timely intervention.
  • Understanding the spectrum of Aicardi syndrome manifestations is crucial for pediatric neurologists and ophthalmologists.
  • Further research into the genetic basis and therapeutic strategies for Aicardi syndrome is warranted.