Related Experiment Video

Updated: Jul 8, 2026

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
12:28

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains

Published on: June 3, 2020

[Clinical outcome of distinct Aicardi syndrome phenotypes]

M Galdós1, R Martínez, J M Prats

  • 1Departamento de Oftalmología Pediátrica y Departamento de Neurología Pediátrica, Hospital de Cruces, Vizcaya, España. martagaldos@monteurquiola.com

Archivos De La Sociedad Espanola De Oftalmologia
|January 12, 2008
PubMed

Insights

Aicardi Syndrome, a rare genetic disorder, shows significant variability in symptoms and severity. Cortical migration abnormalities and retinal lesions can help predict patient outcomes.

Area of Science:

  • Neurology
  • Genetics
  • Ophthalmology

Background:

  • Aicardi Syndrome is a rare, female-restricted genetic disorder.
  • It is characterized by agenesis of the corpus callosum, CNS malformations, and chorioretinal lacunae.

Observation:

  • Three cases of Aicardi Syndrome were diagnosed and compared with existing literature.
  • Phenotypic heterogeneity and clinical severity were detailed across the cases.

Findings:

  • Case 1: Mild ocular morbidity, normal psychomotor development, no epilepsy or migration abnormalities.
  • Case 2: Long-term survival with mild ocular issues, severe psychomotor retardation.
  • Case 3: Severe, rapidly progressing ocular abnormalities, leading to early death.

Implications:

  • Aicardi Syndrome exhibits significant phenotypic variability in clinical features, psychomotor development, and survival.
  • Cortical migration abnormalities and retinal lesions may serve as valuable prognostic indicators for Aicardi Syndrome.
Abstract

Related Concept Videos

Atherosclerosis II: Clinical Manifestations and Diagnostic Tests01:27

Atherosclerosis II: Clinical Manifestations and Diagnostic Tests

Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm II: Clinical Manifestations and Diagnostic Studies

Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
Acute Coronary Syndrome II: Pathophysiology and Clinical Manifestations01:19

Acute Coronary Syndrome II: Pathophysiology and Clinical Manifestations

The pathophysiology of Acute Coronary Syndrome [ACD] involves several key processes:The main underlying cause of ACD is atherosclerosis, a chronic inflammatory disease characterized by the buildup of lipid-laden plaques within the coronary arteries.As the atherosclerotic plaque grows in the coronary artery, it may become unstable due to the formation of a lipid-rich core and a thin fibrous cap. Inflammatory cells within the plaque, such as macrophages, secrete enzymes that degrade the...
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...