Abnormalities in Cultured Muscle and Peripheral Nerve of a Patient with Adrenomyeloneuropathy

ADRENOLEUKODYSTROPHY is a sex-linked recessive disease of childhood characterized by diffuse abnormality of cerebral white matter and adrenal atrophy.1 A syndrome of spastic paraparesis and hypoadrenalism has been recently described as adrenomyeloneuropathy and considered to be a clinically and genetically distinct variant of adrenoleukodystrophy.2 , 3 Biochemical studies of cerebral white matter obtained at autopsy from one person with adrenomyeloneuropathy showed increased amounts of very-long-chain fatty acids,3 a finding previously described as unique in adrenoleukodystrophy.4 We now report biochemical and morphologic abnormalities in biopsied and cultured muscle and peripheral nerve from a patient with adrenomyeloneuropathy. The cultured muscle fibers showed amorphous osmiophilic . . .