Opocher E, Bisogno G, Calderone M, Drigo P
Department of Pediatrics, University of Padua, Padova, Italy.
Neuropediatrics. 2010 Aug;41(2):66-8. doi: 10.1055/s-0030-1255073. Epub 2010 Aug 26.
We describe the case of a 7-year-old boy with cerebral X-linked adrenoleukodystrophy presenting with neurobehavioral symptoms. Attention deficit with hyperactive behavior was followed by progressive memory retrieval deficits and difficulty in writing. A detailed review of the clinical history, clinical examination and contrast-enhanced brain nuclear magnetic resonance imaging disclosed indeed an atypical cerebral form of X-linked adrenoleukodystrophy with diffuse anterior and posterior white matter involvement with a typical rim of contrast enhancement. A severe clinical deterioration occurred despite dietary treatment and hormonal replacement therapy. These rare but severe forms of atypical cerebral X-linked adrenoleukodystrophy can more often mimic attention deficit/hyperactivity disorder and should, therefore, be considered in young males with progressive neurobehavioral symptoms, particularly when possibly related to frontal white matter involvement. An accurate clinical history and examination should determine whenever a contrast-enhanced head MRI should be indicated.
我们描述了一名患有X连锁肾上腺脑白质营养不良的7岁男孩的病例，该男孩表现出神经行为症状。注意力缺陷伴多动行为之后出现了进行性记忆检索缺陷和书写困难。对临床病史、临床检查和对比增强脑核磁共振成像的详细回顾确实发现了一种非典型的X连锁肾上腺脑白质营养不良的脑型，其特征为弥漫性的前后脑白质受累，并伴有典型的对比增强边缘。尽管进行了饮食治疗和激素替代治疗，但仍发生了严重的临床恶化。这些罕见但严重的非典型脑型X连锁肾上腺脑白质营养不良更常表现为注意力缺陷/多动障碍，因此，对于有进行性神经行为症状的年轻男性，尤其是可能与额叶白质受累有关的情况，应考虑到这种疾病。准确的临床病史和检查应确定何时需要进行对比增强头部核磁共振成像检查。
