Adrenoleucodystrophy mimicking multiple sclerosis

The article describes the development of symptoms in a 40-year-old female p atient who is a symptomatic carrier of X-linked adrenoleucodystrophy (ALD). ALD is characterized by impaired peroxisomal beta-oxidation of very long c hain fatty acids and is associated with mutations of the ALD gene, resultin g in a defective peroxisomal membrane-transport protein. Our patient's symp toms are identical to those found in multiple sclerosis showing spastic par aparesis of the lower limbs with marked sensorus deficits, visual disturban ces in the right eye, and bladder difficulties. Visual and auditorial evoke d potentials were pathological, and a cranial MRI revealed multiple periven trical white-matter lesions. We found intrathecal immune production. Diagno sis was established by high concentrations of very long chain fatty acids i n serum and in dermal fibroblasts after the same was found in our patient's son. In familial multiple sclerosis, ALD should be excluded in male and fe male patients.