[Differential acetonemic vomiting diagnosis--recurrent Addison crises as an early sign of adrenoleukodystrophy].
After 5 years of cyclic vomiting an 8 year old boy was presented with coma and hyponatremia. ACTH and renin plasma concentrations were elevated, cortisol concentrations did not rise after ACTH-stimulation. Behavioural abnormalities including secondary enuresis and dysarthria drew attention to the possibility of an association of adrenal insufficiency with leucodystrophy. NMR tomography of the brain showed symmetrical demyelinated areas in the parieto-occipital regions. Very long chain fatty acids were elevated. The mother showed discrete neurological symptoms and elevated long chain fatty acids. Cyclic vomiting might suggest adrenoleukodystrophy.
Koepp
P
P
Universitäts-Kinderklinik Hamburg.
Willig
R P
RP
Menzel
K
K
D000224:Addison Disease / Q000209:etiology*; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000326:Adrenoleukodystrophy / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D003937:Diagnosis, Differential; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications*; D004573:Electrolytes / Q000097:blood; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007657:Ketone Bodies / Q000097:blood*; D008297:Male; D014057:Tomography, X-Ray Computed; D014839:Vomiting / Q000209:etiology*
D004573:Electrolytes; D005227:Fatty Acids; D007657:Ketone Bodies; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone
Differentialdiagnose azetonämisches Erbrechen--Rezidiverende Addison-Krisen als Vorboten einer Adrenoleukodystrophie.