E-Pearl of the Week: Adrenomyeloneuropathy
March 1, 2013
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.
- 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.