[Congenital adrenal gland insufficiency and myopathy].
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.
Pietschnig
B
B
Abteilung für Neonatologie, Universitäts-Kinderklinik, Wien.
Kohlhauser
C
C
Bittner
R E
RE
Amann
G
G
Dobner
M
M
Gratzl
R
R
D000311:Adrenal Glands / Q000002:abnormalities* / Q000473:pathology; D000309:Adrenal Insufficiency / Q000235:genetics* / Q000473:pathology; D000324:Adrenocorticotropic Hormone / Q000097:blood; D001706:Biopsy; D002872:Chromosome Deletion; D003348:Cortisone / Q000097:blood / Q000172:deficiency; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008854:Microscopy, Electron; D009102:Multiple Organ Failure / Q000473:pathology; D009123:Muscle Hypotonia / Q000235:genetics* / Q000473:pathology; D009132:Muscles / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome
D000324:Adrenocorticotropic Hormone; D003348:Cortisone