X-linked adrenoleukodystrophy: a retrospective analysis of 11 cases with review of literature / 中国医师杂志

ABSTRACT

Objective X-linked adrenoleukodystrophy (X-ALD) is a genetically determined disorder that is characterized by demyelination of central nervous system,and impaired adrenal cortex and abnormal accumulation of very long chain fatty acids in body fluid and tissue.The clinical manifestation,biochemical change,and magnetic resonance imaging were analyzed.Methods Clinical data of 11 cases with X-ALD were summarized and analyzed,including symptoms,signs,and inspection result.Relevant literature was reviewed.Results All cases were males,whose average onset age was (7.2 ± 4.7) year-old.It was (2.4 ± 1.9) years that the mean interval appears from onset to diagnosis.Six cases were with onset of adrenal insufficiency (AI),remaining 5 onset neural symptoms,where plasma very-long-chain fatty acids (VLCFA) was tested in 6 patients,all with abnormally high levels and brain magnetic resonance imaging(MRI) showed demyelination of cerebral white matter in 9 ones.Conclusions ALD is a X-linked genetically determined disorder that mainly affects the nervous system and adrenal gland.Plasma VLCFA test,ALD gene test,and cerebral MRI are reliable diagnostic methods.Early diagnosis and appropriate therapy would improve survival and neurological outcomes.