Nally Laura M, Conner Erin, Paige Sharon, Mooney Kelly L, Naber Urs, Richards Rebecca, Wright Gail
Department of Pediatrics, Division of Pediatric Endocrinology, Stanford University, 300 Pasteur Drive G-313, Stanford, CA 94304, USA.
Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, USA.
J Pediatr Endocrinol Metab. 2018 Dec 19;31(12):1371-1376. doi: 10.1515/jpem-2018-0340.
Background Hypertrophic cardiomyopathy (HCM) in childhood is a rare diagnosis, and associations with adrenocortical tumors (ACTs) have been rarely reported in the pediatric literature. Case presentation We present a case of a 5-month-old who presented with HCM and during the evaluation for hypertension was found to have elevated glucocorticoids, mineralocorticoids, androgens and urine metanephrines. During preoperative evaluation, he developed shock followed by cardiogenic collapse requiring extracorporeal membrane oxygenation (ECMO); however, he did not survive. Pathology revealed an ACT with hormone production that contributed to his demise. Conclusions Adrenocortical tumors associated with hypertrophic cardiomyopathy can be life-threatening. We discuss the complex interplay of unrestricted cortical hormone production in the setting of hypertrophic cardiomyopathy that may lead to rapid decline and poor clinical outcomes.
背景 儿童肥厚型心肌病（HCM）是一种罕见的诊断，儿科文献中很少报道其与肾上腺皮质肿瘤（ACTs）的关联。病例报告 我们报告一例5个月大的患儿，其患有HCM，在评估高血压时发现糖皮质激素、盐皮质激素、雄激素和尿间甲肾上腺素水平升高。在术前评估期间，他出现休克，随后发生心源性虚脱，需要体外膜肺氧合（ECMO）；然而，他未能存活。病理检查显示一个产生激素的ACT，这导致了他的死亡。结论 与肥厚型心肌病相关的肾上腺皮质肿瘤可能危及生命。我们讨论了在肥厚型心肌病背景下不受限制的皮质激素产生的复杂相互作用，这可能导致病情迅速恶化和临床预后不良。
