Juvenile Alexander Disease: A Rare Leukodystrophy.

Area of Science:

• Neurology
• Genetics
• Pathology

Background:

• Alexander disease is an uncommon autosomal dominant leukodystrophy impacting the central nervous system's white matter.
• It is characterized by Rosenthal fibers in astrocytes and caused by glial fibrillary acidic protein (GFAP) gene mutations.
• Subtypes include infantile, juvenile, and adult onset, with distinct clinical presentations.

Observation:

• The juvenile form typically emerges between ages three and 10.
• Symptoms include psychomotor retardation, developmental regression, spastic paresis, brain stem dysfunction, and seizures.
• Macrocephaly is less common in the juvenile subtype.

Findings:

• Diagnosis relies on clinical presentation and magnetic resonance imaging (MRI) findings.
• This report details a five-year-old girl with juvenile Alexander disease.
• The case exhibits characteristic clinical and MRI features consistent with the juvenile subtype.

Implications:

• Understanding GFAP mutations and Rosenthal fiber pathology is crucial for Alexander disease.
• Accurate diagnosis through clinical and imaging data aids in managing juvenile Alexander disease.
• This case contributes to the understanding of Alexander disease presentation and diagnosis.