[An infant form of Alexander disease (a clinical case and literature review)]

Area of Science:

• Neuroscience
• Pediatric Neurology
• Genetic Disorders

Background:

• Alexander disease is a rare, progressive neurological disorder.
• The infantile form presents with severe symptoms and rapid deterioration.
• Early diagnosis and understanding disease progression are crucial for management.

Observation:

• A unique case of infantile Alexander disease was studied from the preclinical phase.
• Neurosonography and MRI scans were performed at various disease stages.
• The patient's examination spanned preclinical, manifestation, and fastigium phases.

Findings:

• Rare neurosonography images from the preclinical stage are presented.
• Unique MRI findings at disease onset and a 3-year follow-up were documented.
• The infant form of Alexander disease exhibits distinct clinical stages.

Implications:

• This case provides valuable insights into the natural history of infantile Alexander disease.
• The findings may aid in developing earlier diagnostic markers.
• Understanding clinical staging can inform prognosis and therapeutic strategies.