Diagnosis and misdiagnosis of adrenoleukodystrophy: a causal analysis / 中国医学科学院学报

ABSTRACT

<p><b>OBJECTIVE</b>To discuss the diagnosis of adrenoleukodystrophy(ALD) and analyse the causes of its misdiagnosis.</p><p><b>METHODS</b>The clinical and laboratory data of six cases with ALD were analyzed.</p><p><b>RESULTS</b>Among the six cases of ALD, 4 cases were of childhood cerebral ALD, 1 case of Addison only, and 1 case of adolescent cerebral ALD. Pigmentation of skin was the first symptom in 3 cases. The delay from the diagnosis of Addison's disease to that of ALD ranged from 1 to 6 years. Another 2 cases was misdiagnosed as multiple sclerosis in early stage.</p><p><b>CONCLUSION</b>The most important reason of delay is that the physician is unfamiliar with the ALD clinical features. Assay of very long chain fatty acid (VLCFA) is useful for the early diagnosis of ALD.</p>