title: Simultaneous occurrence of selective ACTH insensitivity, achalasia and alacrimia accompanied by hyperlipoproteinaemia.
abstract: An extremely rare clinical syndrome on a 7-year-old-girl is presented. Besides isolated glucocorticoid insufficiency, achalasia and alacrima disturbance of the lipid metabolism was also detected--being 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.
authors.affiliation: Paediatric Department, Albert Szent-Györgyi Medical University, Szeged, Hungary.
authors.forename: A
authors.initials: A
authors.lastname: Várkonyi
authors.forename: J
authors.initials: J
authors.lastname: Julesz
authors.forename: P
authors.initials: P
authors.lastname: Szüts
authors.forename: I
authors.initials: I
authors.lastname: Tóth
authors.forename: I
authors.initials: I
authors.lastname: Faredin
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000175:diagnosis*; D000324:Adrenocorticotropic Hormone / Q000097:blood*; D002648:Child; D004931:Esophageal Achalasia / Q000097:blood / Q000175:diagnosis*; D005260:Female; D005938:Glucocorticoids / Q000172:deficiency; D006801:Humans; D006951:Hyperlipoproteinemias / Q000175:diagnosis*; D013577:Syndrome; D013666:Tears / Q000378:metabolism*
chemical_list: D005938:Glucocorticoids; D000324:Adrenocorticotropic Hormone