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 "first case report" symptom

  • achondroplasia
  • alexander disease
  • canavan disease
  • cholangiocarcinoma
  • coats disease
  • dedifferentiated liposarcoma
  • heparin-induced thrombocytopenia
  • hereditary cerebral hemorrhage with amyloidosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • lymphangioleiomyomatosis
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • primary effusion lymphoma
  • well-differentiated liposarcoma

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