Shamim Daniah, Alleyne Karen
Saba University School of Medicine, Devens, MA, USA.
St. Elizabeth's Hospital, Washington, DC, USA.
SAGE Open Med Case Rep. 2017 Nov 21;5:2050313X17741009. doi: 10.1177/2050313X17741009. eCollection 2017.
Adult-onset adrenoleukodystrophy is a rare x-linked inborn error of metabolism occurring predominantly in males with onset in early 30s. Here, we report a 34-year-old male with first signs of disease in early 20s manifesting as a pure psychiatric disorder. Prior to onset of neurological symptoms, this patient demonstrated a schizophrenia and bipolar-like presentation. The disease progressed over the next 10-13 years and his memory and motor problems became evident around the age of 33 years. Subsequently, diagnostic testing showed the typical magnetic resonance imaging and lab findings for adult-onset adrenoleukodystrophy. This case highlights adult-onset adrenoleukodystrophy which may present as a pure psychiatric disturbance in early adulthood and briefly discusses the prolonged time between the onset of psychiatric symptoms and the onset of neurological disease.
成人型肾上腺脑白质营养不良是一种罕见的X连锁先天性代谢紊乱疾病，主要发生于男性，发病年龄多在30岁出头。在此，我们报告一名34岁男性，其在20岁出头时出现疾病的最初症状，表现为单纯的精神障碍。在神经症状出现之前，该患者表现出精神分裂症和双相情感障碍样症状。疾病在接下来的10 - 13年中进展，他的记忆和运动问题在33岁左右变得明显。随后，诊断测试显示出成人型肾上腺脑白质营养不良典型的磁共振成像和实验室检查结果。该病例突出了成人型肾上腺脑白质营养不良在成年早期可能表现为单纯的精神障碍，并简要讨论了精神症状出现与神经疾病发作之间的时间延长问题。
