title: [Diagnosis and misdiagnosis of adrenoleukodystrophy: a causal analysis].
abstract: OBJECTIVE
  To discuss the diagnosis of adrenoleukodystrophy(ALD) and analyse the causes of its misdiagnosis.
  
  
  METHODS
  The clinical and laboratory data of six cases with ALD were analyzed.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neurology, PUMC Hospital, CAMS and PUMC, Beijing 100730, China. huangyan90@hotmail.com
authors.forename: Yan
authors.initials: Y
authors.lastname: Huang
authors.forename: Xiu-qin
authors.initials: XQ
authors.lastname: Liu
mesh_terms: D000224:Addison Disease / Q000175:diagnosis; D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D006801:Humans; D008297:Male