E-Pearl of the Week: Adrenomyeloneuropathy

March 1, 2013

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February 28, 2013

Adrenomyeloneuropathy

Adrenomyeloneuropathy commonly manifests in the second decade or later as a slowly progressive paraparesis, sphincter and erectile dysfunction and impaired adrenocortical function. It is one of the subtypes of adrenoleukodystrophy, an X–linked recessive disorder, the most common peroxisomal disorder. Half of female carriers may be symptomatic with an adrenomyeloneuropathy–like phenotype, with slowly progressive mild spastic paraparesis that can present in adulthood. The diagnosis is suspected when plasma concentration of very–long chain fatty acids is elevated in males. The diagnosis can be confirmed by mutation analysis of the ABCD1 gene.

References

  1. Dhamija R, Raymond GV, Gavrilova R. 59 year old man with progressive spasticity. Neurology 2012; 80: e84–e88.

Submitted by: Chafic Karam, MD Rochester, MN

Disclosure: Dr. Karam served on the editorial team for the Neurology® Resident and Fellow Section.

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