[Simultaneous occurrence of selective ACTH deficiency , achalasia, alacrimia and hyperlipoproteinemia].
An extremely rare clinical syndrome on a 7-year-old girl is presented. Besides isolated glucocorticoid insufficiency, achalasia and alacrimia disturbance of the lipid metabolism was also detected--this is a special feature of this case. The details of the endocrine workup is discussed, providing clues for the possible pathomechanism. The correct diagnosis and specific therapy is of utmost importance in the everyday life of the patient.
Várkonyi
A
A
Szent-Györgyi Albert Orvostudományi Egyetem, Szeged.
Julesz
J
J
Szüts
P
P
Tóth
I
I
Faredin
I
I
D000311:Adrenal Glands / Q000187:drug effects; D000324:Adrenocorticotropic Hormone / Q000008:administration & dosage / Q000494:pharmacology*; D002648:Child; D004931:Esophageal Achalasia / Q000150:complications*; D005260:Female; D005938:Glucocorticoids / Q000172:deficiency*; D006801:Humans; D006854:Hydrocortisone / Q000031:analogs & derivatives / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000150:complications*; D007765:Lacrimal Apparatus / Q000002:abnormalities; D013666:Tears
D005938:Glucocorticoids; C021650:hydrocortisone acetate; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone
Szelektív ACTH érzéketlenség, achalasia és alacrimia együttes elöfordulása hyperlipoproteinaemiával.