[Achalasia, alacrimia and cortisol deficiency--Allgrove syndrome].
Review of a rare multisystem disorder with the main symptoms achalasia of the esophagus, alacrimia and glucocorticoid deficiency as well as multiple other symptoms especially of the nervous system. Report of one case diagnosed in the age of 11.5 years with a case history of about 7 years. Description of the danger to live of the affected patients primarily by the underlying glucocorticoid deficiency in various stages with bearing the peril of hypoglycemic shock and even death after heavy stress conditions.
Hübschmann
K
K
Klinikum Ernst von Bergmann Potsdam--Kinderklinik.
D000224:Addison Disease / Q000175:diagnosis / Q000235:genetics*; D000324:Adrenocorticotropic Hormone / Q000097:blood; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003878:Dermatoglyphics; D004931:Esophageal Achalasia / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D006854:Hydrocortisone / Q000172:deficiency*; D008297:Male; D013577:Syndrome; D013666:Tears / Q000378:metabolism*
D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone
Achalasie, Alakrimie und Cortisolmangel--das Allgrove Syndrom.