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 "high incidence" symptom

  • achondroplasia
  • acute rheumatic fever
  • alexander disease
  • alpha-thalassemia
  • aniridia
  • coats disease
  • congenital adrenal hyperplasia
  • dystrophic epidermolysis bullosa
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • gm1 gangliosidosis
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • legionellosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • papillon-lefèvre syndrome
  • scrub typhus
  • typhoid
  • von hippel-lindau disease
  • werner syndrome

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