Pietschnig B, Kohlhauser C, Bittner R E, Amann G, Dobner M, Gratzl R
Abteilung für Neonatologie, Universitäts-Kinderklinik, Wien.
Wien Klin Wochenschr. 1995;107(4):149-52.
We report a rare case of a female newborn presenting with muscular hypotonia, pneumonia, and cardiovascular and renal insufficiency. Adrenal insufficiency was diagnosed clinically and proven by extremely low cortisone (0.4-0.8 microgram/dl) and high ACTH plasma levels. Myopathy was diagnosed clinically, as well as by muscular biopsy. DNA analysis of both X chromosomes showed no abnormality in the region of the genes for adrenal hypoplasia and Duchenne muscular dystrophy. After 4 weeks of intensive care therapy the patient died of multiorgan failure. At autopsy she had only microscopically visible fetal adrenal cells and multiple porencephalic lesions.
我们报告了一例罕见的女性新生儿病例，该患儿表现为肌张力减退、肺炎以及心血管和肾功能不全。临床诊断为肾上腺功能不全，并通过极低的皮质醇水平（0.4 - 0.8微克/分升）和高促肾上腺皮质激素血浆水平得到证实。临床诊断为肌病，并通过肌肉活检得以确诊。对两条X染色体的DNA分析显示，肾上腺发育不全和杜氏肌营养不良基因区域无异常。经过4周的重症监护治疗后，患者死于多器官功能衰竭。尸检时，她仅发现显微镜下可见的胎儿肾上腺细胞和多个脑穿通畸形病变。
