Infantile Alexander's disease. A case report

Area of Science:

• Neurology
• Pediatric Neurology
• Neuroscience

Background:

• Infantile Alexander disease is a rare, fatal genetic leukodystrophy affecting infants.
• Characterized by megaloencephaly, demyelination, and Rosenthal fibers in the brain.
• Early diagnosis is crucial for management and genetic counseling.

Observation:

• A 15-month-old male infant presented with megaloencephaly, seizures, behavioral changes, and psychomotor delay.
• Imaging studies, including CT and MRI, revealed leukodystrophy and demyelination.
• The case was sporadic, with no known family history of Alexander disease.

Findings:

• The patient exhibited classic symptoms and neuroimaging findings consistent with infantile Alexander disease.
• Magnetic resonance imaging (MRI) was instrumental in confirming the diagnosis.
• Differential diagnosis for megaloencephaly and seizures in infants is emphasized.

Implications:

• This case underscores the importance of comprehensive diagnostic approaches for infantile leukodystrophies.
• Accurate diagnosis through advanced imaging like MRI aids in understanding disease progression.
• Further research into Alexander disease pathogenesis and treatment is warranted.