Morell Bernhard Kaspar, Teichler Jens, Budak Kemal, Vollenweider Jörg, Pavlicek Vojtech
Kantonsspital Münsterlingen, Internal Medicine, Postfach, Münsterlingen, 8596, Switzerland.
BMJ Case Rep. 2010 May 13;2010:bcr11.2009.2419. doi: 10.1136/bcr.11.2009.2419.
We report the case of a young man with a history of attention deficit/hyperactivity disorder and mild cognitive impairment who presented with chronic fatigue, anorexia and progressive darkening of the skin. On laboratory testing, severely depressed concentrations of morning cortisol, along with highly elevated values of adrenocorticotropic hormone (ACTH) revealed primary adrenal insufficiency as the primary cause of the patient's symptomatology. Imaging of the brain showed altered signal intensities in the parieto-occipital regions of the brain. The demonstration of increased very long chain fatty acids (VLCFA) established the diagnosis of adolescent X-linked adrenoleukodystrophy (X-ALD). Presenting at an advanced yet slowly progressive stage the patient was not a suitable candidate for haematopoietic stem cell transplantation (HSCT), and treatment focused on hormone replacement therapy, family counselling and supportive care. On follow-up visits within the following year, fatigue had diminished and there was no evidence of progressive neurological deficits. However, exacerbation of the psychiatric symptomatology resulted in admittance to a psychiatric ward.
我们报告了一例患有注意力缺陷/多动障碍和轻度认知障碍病史的年轻男性病例，该患者出现慢性疲劳、厌食和皮肤渐进性变黑。实验室检查显示，清晨皮质醇浓度严重降低，同时促肾上腺皮质激素（ACTH）值大幅升高，提示原发性肾上腺功能不全是患者症状的主要原因。脑部成像显示大脑顶枕叶区域信号强度改变。极长链脂肪酸（VLCFA）升高确诊为青少年X连锁肾上腺脑白质营养不良（X-ALD）。该患者就诊时处于疾病晚期但进展缓慢，不适合进行造血干细胞移植（HSCT），治疗重点为激素替代治疗、家庭咨询和支持性护理。在接下来的一年随访中，疲劳减轻，没有进行性神经功能缺损的证据。然而，精神症状加重导致患者入住精神科病房。
