Rare Diseases Symptoms Automatic Extraction

Neonatal adrenoleukodystrophy presenting with seizure at birth: a case report and review of the literature.

[neonatal adrenoleukodystrophy]

Neonatal seizures are critical conditions because they are usually related to significant illnesses that require a specific therapy. Antepartum and peripartum seizures are very rare, and represent signs of prenatal-onset neurologic dysfunction. A review of the literature revealed that the main etiologies include severe brain malformations, multiple anomalies, and metabolic encephalopathy. A high incidence of early fatality and serious neurologic sequelae were noted. To our knowledge, this is the first case report of neonatal adrenoleukodystrophy presenting with seizure at birth. These very-early-onset seizures may require unique diagnostic and therapeutic considerations, in contrast with the later onset of seizures in neonates.

Diseases presenting "brain malformations" symptom

  • child syndrome
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • neonatal adrenoleukodystrophy
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • zellweger syndrome

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