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 "spasticity" symptom

  • adrenomyeloneuropathy
  • alexander disease
  • congenital toxoplasmosis
  • gm1 gangliosidosis
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • krabbe disease
  • lamellar ichthyosis
  • neonatal adrenoleukodystrophy
  • pyruvate dehydrogenase deficiency
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated