Department of Pediatrics, University of Minnesota Amplatz Children's Hospital, Minneapolis, MN 55455, USA.
Pediatrics. 2011 Mar;127(3):e777-80. doi: 10.1542/peds.2010-2232. Epub 2011 Feb 14.
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.
X 连锁肾上腺脑白质营养不良的特征是血清、大脑和肾上腺中非常长链脂肪酸水平升高，可导致神经发育障碍和肾上腺功能减退。我们在此报告一例心包炎患儿，该患儿被诊断为肾上腺脑白质营养不良。排除了更常见的心包炎病因（如感染性、自身免疫性和代谢性）。根据皮肤色素沉着的检查结果，发现皮质醇减少症。进一步评估显示血清中非常长链脂肪酸水平升高，ABCD1 基因部分缺失，符合 X 连锁肾上腺脑白质营养不良的诊断。随后发现指数患者的两个兄弟也患有同样的疾病。尽管心包炎以前曾与影响肾上腺的自身免疫性疾病有关，但据我们所知，这是心包炎与非自身免疫性原因导致的皮质醇减少症相关的首例报告病例。因此，我们建议皮质醇减少症本身可能导致某些患者发生心包炎。
