Bareille P, Azcona C, Stanhope R
Department of Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom.
J Paediatr Child Health. 1999 Jun;35(3):315-8. doi: 10.1046/j.1440-1754.1999.00337.x.
Two cases of McCune-Albright syndrome (MAS) are reported who presented in the neonatal period with profound failure to thrive, cardio-respiratory distress, precocious puberty and Cushing's syndrome for which both underwent bilateral adrenalectomy. Both girls had also bilateral nephrocalcinosis; in one case that may have been attributed to Cushing's syndrome, but in the second case the cause remained obscure with no obvious abnormality of calcium metabolism. The first girl had hydrocephalus which is uncommon in this condition and the second girl still failed to thrive at the age of 6 years, despite adequate caloric intake and hormonal manipulation. A constellation of other abnormal features are described. These cases illustrate the complexity of MAS which can become a life-threatening or a debilitating disorder.
报告了两例麦库恩-奥尔布赖特综合征(MAS)病例,这两名患儿在新生儿期出现严重的生长发育迟缓、心肺功能不全、性早熟和库欣综合征,均接受了双侧肾上腺切除术。两名女孩均有双侧肾钙质沉着症;其中一例可能归因于库欣综合征,但另一例病因不明,钙代谢无明显异常。第一名女孩患有脑积水,这在该病症中并不常见,第二名女孩尽管摄入了足够的热量并进行了激素治疗,但在6岁时仍生长发育迟缓。还描述了一系列其他异常特征。这些病例说明了MAS的复杂性,它可能成为危及生命或使人衰弱的疾病。