Clinical and electrophysiological improvement of adrenomyeloneuropathy with steroid treatment
- 1Department of Neurology, State University of New York at Buffalo, Buffalo General Hospital, 100 High Street, Buffalo, NY 14203, USA
- 2Department of Neurology, VA Medical Centre, Buffalo, New York
- 3Kennedy–Krieger Institute and Department of Neurology and Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA
- Correspondence to: Dr Li-Xin Zhang; zlixin{at}acsu.buffalo.edu
The two most common phenotypes of X-linked adrenoleucodystrophy are the childhood cerebral form and adrenomyeloneuropathy, which occurs mainly in adults and affects the long tracts in the spinal cord most severely.1 Most patients with the cerebral forms have an inflammatory demyelinating process, while the principal pathology of adrenomyeloneuropathy is a non-inflammatory distal axonopathy, although 30% of patients with adrenomyeloneuropathy also develop some degree of inflammatory brain pathology.2 All forms of X-linked adrenoleucodystrophy are caused by a defect in the gene ABCD1 which codes for the peroxisomal membrane protein ALDP and is associated with the abnormal accumulation of very long chain fatty acids. Most patients with X-linked adrenoleucodystrophy have primary adrenocortical insufficiency. Although adrenal hormone treatment is considered mandatory and may be life saving, most investigators have expressed the opinion that it does not alter neurological status. We report a patient with a variant of adrenomyeloneuropathy in whom adrenal hormone replacement therapy improved neurophysiological function and clinical status.
Case report
A 39 year old man was evaluated for adrenoleucodystrophy at the Kennedy–Krieger Institute (KKI) in 1985, because his nephew had been diagnosed with childhood onset adrenoleucodystrophy. The nephew died aged nine years and had necropsy confirmation of the diagnosis. Our …
