[Diagnosis and misdiagnosis of adrenoleukodystrophy: a causal analysis].
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.
Huang
Yan
Y
Department of Neurology, PUMC Hospital, CAMS and PUMC, Beijing 100730, China. huangyan90@hotmail.com
Liu
Xiu-qin
XQ
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