Adrenoleucodystrophy mimicking multiple sclerosis

The article describes the development of symptoms in a 40-year-old female patient who is a symptomatic carrier of X-linked adrenoleucodystrophy (ALD). ALD is characterized by impaired peroxisomal beta-oxidation of very long chain fatty acids and is associated with mutations of the ALD gene, resulting in a defective peroxisomal membrane-transport protein. Our patient's symptoms are identical to those found in multiple sclerosis showing spastic paraparesis of the lower limbs with marked sensorus deficits, visual disturbances in the right eye, and bladder difficulties. Visual and auditorial evoked potentials were pathological, and a cranial MRI revealed multiple periventrical white-matter lesions. We found intrathecal immune production. Diagnosis was established by high concentrations of very long chain fatty acids in 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 female patients.