X-linked adrenoleukodystrophy is characterized by elevated levels of very long chain fatty acids in the serum, brain, and adrenal glands that can lead to neurodevelopmental impairment and decreased adrenal function. We report here the case of a pediatric patient with pericarditis who was found to have adrenoleukodystrophy. More common causes of pericarditis (such as infectious, autoimmune, and metabolic) were excluded. On the basis of the examination finding of cutaneous hyperpigmentation, hypocortisolism was discovered. Further evaluation revealed elevated serum levels of very long chain fatty acids and a partial deletion of the ABCD1 gene, consistent with the diagnosis of X-linked adrenoleukodystrophy. Two of the index patient's brothers were subsequently found to have the same disease. Although pericarditis has been reported previously in association with autoimmune diseases that affect the adrenal glands, this is the first reported case (to our knowledge) of pericarditis in association with hypocortisolism from a nonautoimmune cause. Therefore, we suggest that hypocortisolism itself may lead to pericarditis in some patients.
|Original language||English (US)|
|State||Published - Mar 2011|
- Addison disease