Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis.
OBJECTIVE
To review the clinical presentations and diagnostic issues in adrenomyeloneuropathy and adrenoleukodystrophy, which are different presentations of the same single gene disorder.


METHODS
Observational study.


METHODS
Three generations of an affected kindred.


METHODS
None.


METHODS
Neurological features suggestive of adrenoleukodystrophy or adrenomyeloneuropathy. Measurement of very long chain fatty acids. Molecular analysis of the adrenoleukodystrophy gene.


RESULTS
Three adults presented with adrenomyeloneuropathy and two children with adrenoleukodystrophy. Circulating concentrations of long chain fatty acids were raised consistent with clinical features. A mutation in exon 6 of the adrenoleukodystrophy gene (P543L) was identified. This had not previously been identified but has subsequently been reported by other groups.


CONCLUSIONS
Adrenomyeloneuropathy should be considered in the differential diagnosis in male patients presenting with adrenal failure. Early diagnosis allows genetic counselling in such families and may become more important as treatment strategies evolve.
Mukherjee
Sagarika
S
Wrexham Academic Unit, Wales College of Medicine, Cardiff University, Wales, UK.
Newby
Elizabeth
E
Harvey
John N
JN