CareLit Fachartikel
Seltene Ursache einer primären Nebennierenrindeninsuffizienz – Fall 6/2011
F Blaschka, M Synofzik, L Schöls, I Rau, A Gal, K Müssig · DMW - Deutsche Medizinische Wochenschrift · 2011 · Heft 24 · S. 1316
Dokument
1047445
CareLit-ID
Jahr
2011
Publikation
PDF
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Metadaten
DOI
ja
zitierfähig
Bibliografische Angaben
Zusammenfassung
Abstract HISTORY AND ADMISSION FINDINGS: A 48-year-od patient (case 1) with progressive stiffness and weakness of the legs and urge incontinence and a 38-year-old patient (case 2) with primary adrenal insufficiency and familial occurrence of adrenoleukodystrophy (ALD) presented for further evaluation. INVESTIGATIONS: Laboratory values in case 1 revealed primary adrenal insufficiency (decreased cortisol and increased corticotropin) and increase of the very long chain fatty acids (VLCFA). Clinical examination revealed paraspasticity and neurography showed demyelinating motor neuropathy of the lower extremities. Ca…
Schlagworte
Adrenoleukodystrophie
Addison-Erkrankung
überlangkettige Fettsäuren
spastische Paraparese
Lorenzos Öl
adrenoleukodystrophy
Addison's disease
very long chain fatty acids
spastic paraplegia
Lorenzo's oil
DMW - Deutsche Medizinische Wochenschrift
