Koepp P, Willig R P, Menzel K
Universitäts-Kinderklinik Hamburg.
Monatsschr Kinderheilkd. 1987 Aug;135(8):508-10.
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.
一名8岁男孩在经历5年周期性呕吐后,出现昏迷和低钠血症。促肾上腺皮质激素(ACTH)和血浆肾素浓度升高,ACTH刺激后皮质醇浓度未升高。包括继发性遗尿和构音障碍在内的行为异常使人注意到肾上腺功能不全与脑白质营养不良相关的可能性。脑部核磁共振断层扫描显示顶枕区有对称的脱髓鞘区域。极长链脂肪酸升高。母亲有轻微的神经症状且长链脂肪酸升高。周期性呕吐可能提示肾上腺脑白质营养不良。