Adrenomyeloneuropathy (AMN)
Case Study A
A 33-year-old male was referred to a neurologist for evaluation of neuralgia, neuritis, and radiculitis. The man had an 18-year history of Addison's disease. He had slowly progressive weakness, numbness, and spasticity in his legs, and required the use of a cane. His upper extremities were not affected. The man complained of recent problems with impotence. His intelligence was normal and there was no sign of psychological disturbance. Analysis of the man's plasma very long chain fatty acids and phytanic acid concentrations revealed abnormally high amounts of C26:0 and C26:1 and increased ratios of C26:0/C22:0 and C24:0/C22:0. Plasma phytanic acid concentration was in the normal range. These results, combined with the patient's clinical history, were consistent with a diagnosis of the peroxisomal disorder, Adrenomyeloneuropathy. Genetic counseling and analysis of very long chain fatty acids in first-degree relatives were recommended.
|
