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 "encephalopathy" symptom

  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • child syndrome
  • congenital toxoplasmosis
  • dedifferentiated liposarcoma
  • hereditary cerebral hemorrhage with amyloidosis
  • homocystinuria without methylmalonic aciduria
  • legionellosis
  • locked-in syndrome
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • sneddon syndrome
  • systemic capillary leak syndrome
  • waldenström macroglobulinemia
  • werner syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated