Infantile Alexander Disease: Case Report and Review of Literature

Area of Science:

• Neuroscience
• Genetics
• Pediatric Neurology

Background:

• Alexander Disease (AD) is an autosomal dominant leukodystrophy affecting infants and children.
• The infantile form is the most common subtype, often leading to death within ten years.
• Diagnosis is typically established through clinical presentation and magnetic resonance imaging (MRI).

Observation:

• This report details a specific case of Infantile Alexander Disease.
• The patient exhibited characteristic progressive psychomotor deficiency and loss of developmental milestones.
• Pyramidal signs and seizures were also noted clinical features.

Findings:

• The case presented with hallmark clinical manifestations of Infantile AD.
• Radiological findings on MRI were consistent with the diagnosis of Alexander Disease.
• Characteristic features aid in the early and accurate diagnosis of this leukodystrophy.

Implications:

• Understanding these features is crucial for timely diagnosis and management of Alexander Disease.
• This case contributes to the clinical knowledge base of infantile leukodystrophies.
• Early diagnosis can potentially inform genetic counseling and future therapeutic strategies.