Garside S, Rosebush P I, Levinson A J, Mazurek M F
Department of Psychiatry, McMaster University Medical Center, Hamilton, Ontario, Canada.
J Clin Psychiatry. 1999 Jul;60(7):460-8. doi: 10.4088/jcp.v60n0708.
It is not commonly appreciated that patients with adrenoleukodystrophy (ALD) can first present in adulthood with psychiatric symptoms.
This case study involved a 31-year-old man who was referred for a neuropsychiatric assessment of tardive dyskinesia and treatment-resistant psychosis. Upon neurologic examination, he was found to have spasticity, marked hyperreflexia with clonus, and bilateral Babinski signs. T2-weighted magnetic resonance imaging demonstrated severe white matter disease. Metabolic screening revealed abnormalities of very long chain fatty acids consistent with the diagnosis of ALD. These results prompted us to review the literature on late-onset ALD with attention to (1) the nature of the associated psychiatric and neurologic symptoms, (2) the neuroimaging abnormalities associated with this disorder, and (3) treatment considerations.
Individuals with adult-onset ALD may initially present with psychiatric symptomatology. Most commonly, these patients manifest signs of mania including disinhibition, impulsivity, increased spending, hypersexuality, loudness, and perseveration. ALD patients will often have upper motor neuron findings on neurologic examination. Despite the name of the disease, patients with ALD may not have clinical evidence of adrenal dysfunction. Neuroimaging reveals diffuse, confluent white matter lesions that typically originate in the parieto-occipital region. Both neuroleptic and anticholinergic medications may result in significant side effects with little resolution of the underlying psychiatric symptoms.
This case study and review of the literature illustrate the importance of performing neurologic and radiological examinations on all psychiatric patients with chronic illnesses. We emphasize the importance of reexamining and reimaging patients who are not responding to standard treatment. The clinical problem of "treatment resistance" should be seen as an indication that other diagnoses, such as an underlying metabolic disorder, need to be considered.
肾上腺脑白质营养不良（ALD）患者首次出现成年期精神症状的情况并不常见。
本病例研究涉及一名31岁男性，他因迟发性运动障碍和难治性精神病接受神经精神评估。经神经系统检查，发现他有痉挛、明显的反射亢进伴阵挛以及双侧巴宾斯基征。T2加权磁共振成像显示严重的白质病变。代谢筛查发现极长链脂肪酸异常，符合ALD的诊断。这些结果促使我们回顾关于迟发性ALD的文献，关注（1）相关精神和神经症状的性质，（2）与该疾病相关的神经影像学异常，以及（3）治疗考虑因素。
成年发病的ALD患者最初可能表现出精神症状。最常见的是，这些患者表现出躁狂迹象，包括脱抑制、冲动、消费增加、性欲亢进、大声喧哗和持续言语。ALD患者在神经系统检查时通常会有上运动神经元表现。尽管有该疾病的名称，但ALD患者可能没有肾上腺功能障碍的临床证据。神经影像学显示弥漫性、融合性白质病变，通常起源于顶枕区。抗精神病药物和抗胆碱能药物都可能导致明显的副作用，而潜在的精神症状几乎没有缓解。
本病例研究和文献回顾说明了对所有患有慢性疾病的精神科患者进行神经系统和放射学检查的重要性。我们强调对标准治疗无反应的患者进行重新检查和重新成像的重要性。“治疗抵抗”的临床问题应被视为需要考虑其他诊断，如潜在代谢紊乱的一个指标。
