Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion

Clin Case Rep. 2015 Jul;3(7):643-5. doi: 10.1002/ccr3.283. Epub 2015 Jun 11.


This is the first reported case of fetal pericardial effusion in association with X-linked adrenoleukodystrophy and hypocortisolism from a nonautoimmune cause. Our hypothesis is that in experienced hands and after accurate genetic counseling, isolated pericardial effusion can constitute an indication for a severe metabolic disease.

Keywords: Genetic counseling; X-linked adrenoleukodystrophy; hyporcotisolism; pericardial effusion.

Publication types

  • Case Reports