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Infantile Alexander's disease. A case report.

J A Avina Fierro1, J P Ramirez Contreras

  • 1Department of Pediatrics, Hospital IMSS 14, Guadalajara, Mexico. avinafie@megared.net.mx

Minerva Pediatrica
|July 13, 2006
PubMed
Summary

Infantile Alexander disease, a rare leukodystrophy, presents with megaloencephaly and seizures in infants. This case highlights diagnostic challenges and confirms the condition via MRI.

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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.

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