Rare Diseases Symptoms Automatic Extraction

Prolonged survival and serial magnetic resonance imaging/magnetic resonance spectroscopy changes in infantile Krabbe disease.

[krabbe disease]

Krabbe disease may present during infancy, late infancy, or adulthood. Earlier-onset disease is associated with shorter survival times. We present a case of infantile onset Krabbe disease with prolonged survival, initial intracranial optic nerves and optic chiasm hypertrophy, and serial changes on cranial magnetic resonance imaging and magnetic resonance spectroscopy.

Diseases presenting "late infancy" symptom

  • krabbe disease
  • neonatal adrenoleukodystrophy
  • pyruvate dehydrogenase deficiency
  • wolf-hirschhorn syndrome

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