DA Simpson, AM Pawlak, MA Nigro, R Wishnow. A variant of adrenomyeloneuropathy in a family with adrenoleukodystrophy and adrenomyeloneuropathy. J Am Osteopath Assoc 1994;94(9):745. doi: 10.7556/jaoa.1922.214.171.1245.
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A 31-year-old man was seen with addisonian crisis, followed by the abrupt onset of spastic paraparesis and peripheral neuropathy. A workup revealed adrenal insufficiency, for which the patient was aggressively treated. The workup also revealed an increase in very-long-chain fatty acids consistent with the diagnosis of adrenomyeloneuropathy. Abnormal pituitary dysfunction improved with treatment of the Addison's disease. A review of the patient's pedigree revealed two family members in whom multiple sclerosis had been diagnosed but which, in retrospect, was thought to be adrenomyeloneuropathy. No other family member was found to have Addison's disease. A sibling died at age 8 of Schilder's disease, confirming the presence of adrenoleukodystrophy as well as adrenomyeloneuropathy within this family.
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