[Adult myeloneuropathic variant of adrenoleukodystrophy with Addison crisis].
In a 32-year-old patient on account of an insufficiency of the adrenal cortex as well as of a leg-related tetraspasticity with a simultaneous subclinical peripheral neuropathy after exclusion of other endocrine and neurological diseases which are to be regarded differential-diagnostically the diagnosis of a myeloneuropathic adult variant of the adrenoleukodystrophy, the adrenomyeloneuropathy, was made. The disease in question is an x-chromosomally inherited disease, the basis of which is a metabolic disease in the destruction of long-chained fatty acids as basal disturbance. The cerebral radiologic exclusion diagnostics was made with CCT and MRT. On the basis of the literature the differential-diagnostic problems of this rare subspecies of the adrenoleukodystrophy which is at present causally not to be treated are discussed and it is referred to the clinical conclusions concerning a timely hormonal substitution therapy and genetic consultation.
Göpel
W
W
Neurologischen Klinik Bezirksnervenklinik Hildburghausen.
Tuschy
U
U
Gerlach
K D
KD
D000224:Addison Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D000328:Adult; D001706:Biopsy; D001921:Brain / Q000473:pathology; D004334:Drug Administration Schedule; D005438:Fludrocortisone / Q000008:administration & dosage; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008854:Microscopy, Electron; D009186:Myelin Sheath / Q000648:ultrastructure; D010901:Pituitary Function Tests; D011129:Polyradiculoneuropathy / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D011239:Prednisolone / Q000008:administration & dosage; D013497:Sural Nerve / Q000473:pathology; D013739:Testosterone / Q000008:administration & dosage; D014057:Tomography, X-Ray Computed
D013739:Testosterone; D011239:Prednisolone; D005438:Fludrocortisone
Myeloneuropathische Erwachsenenvariante der Adrenoleukodystrophie mit Addison-Krise.