de Mingo Carmen, Brugada María, León Sara, Moreno Francisca, Vila Nieves, Palanques-Pastor Tomás, Poveda José Luis, Orti Carlos, García-Robles Ana
Division of Pediatric Endocrinology, University and Polytechnic Hospital La Fe, Valencia, Spain.
Neonatal Research Group, Health Research Institute La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain.
J Pediatr Endocrinol Metab. 2020 Jul 22. doi: 10.1515/jpem-2020-0036.
Objectives To present a case report of succesfully metyrapone treatment of a neonatal patient with McCune-Albrigth syndrome (MAS), a rare disease caused by a genetically mosaic disorder and is characterized by variable hyperfunctional endocrinopathies, bone dysplasia, and café-au-lait spots. Case presentation A preterm newborn was admitted to hospital and she presented difficulty controlling hypertension, café-au-lait spots, and failure to thrive. An abdominal ultrasound and a magnetic resonance showed a high volume of both suprarenal glands. Therefore, MAS was suspected. Laboratory data confirmed adrenocorticotropic hormone-independent Cushing's syndrome with hepatic dysfunction and metyrapone treatment was initiated. A progressive normalization of cortisol levels was achieved despite poor oral tolerance. Conclusion Our case shows that metyrapone is useful in the management of neonatal Cushing's syndrome due to McCune-Albright syndrome.
目的 报告1例成功使用甲吡酮治疗患有McCune-Albrigth综合征（MAS）的新生儿患者的病例。MAS是一种由基因镶嵌性疾病引起的罕见病，其特征为各种功能亢进性内分泌病、骨发育异常和牛奶咖啡斑。病例介绍 一名早产新生儿入院，出现难以控制的高血压、牛奶咖啡斑和发育不良。腹部超声和磁共振成像显示双侧肾上腺体积增大。因此，怀疑为MAS。实验室数据证实为促肾上腺皮质激素非依赖性库欣综合征伴肝功能障碍，并开始使用甲吡酮治疗。尽管口服耐受性差，但皮质醇水平逐渐恢复正常。结论 我们的病例表明，甲吡酮对治疗因McCune-Albright综合征导致的新生儿库欣综合征有效。
