Diagnosis and misdiagnosis of adrenoleukodystrophy: a causal analysis.
- Author:
Yan HUANG
1
;
Xiu-qin LIU
Author Information
- Publication Type:Case Reports
- MeSH: Addison Disease; diagnosis; Adolescent; Adrenoleukodystrophy; diagnosis; Child; Child, Preschool; Diagnosis, Differential; Diagnostic Errors; Humans; Male
- From: Acta Academiae Medicinae Sinicae 2003;25(6):722-724
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo discuss the diagnosis of adrenoleukodystrophy(ALD) and analyse the causes of its misdiagnosis.
METHODSThe clinical and laboratory data of six cases with ALD were analyzed.
RESULTSAmong 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.
CONCLUSIONThe 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.
