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 "hypertriglyceridemia" symptom

  • cushing syndrome
  • neonatal adrenoleukodystrophy
  • werner syndrome

This symptom has already been validated