Rare Diseases Symptoms Automatic Extraction

Propofol infusion syndrome or adrenoleukodystrophy?

[neonatal adrenoleukodystrophy]

Following a propofol anesthetic, a 5-year-old girl with lower extremity spasticity seized and developed hypertriglyceridemia, hyperkalemia, and metabolic acidosis. A presumed diagnosis of propofol infusion syndrome (PRIS) was made, but further investigation revealed neonatal adrenoleukodystrophy. PRIS should be considered with this constellation of symptoms, but other neurometabolic disorders must always be ruled out.

Diseases presenting "metabolic acidosis" symptom

  • congenital diaphragmatic hernia
  • homocystinuria without methylmalonic aciduria
  • neonatal adrenoleukodystrophy
  • pendred syndrome
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • systemic capillary leak syndrome

This symptom has already been validated