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

Abstract

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 . . .