Spastische paraparese en bijnierinsufficiëntie: adrenomyeloneuropathie

- The case history of a 36-year-old man suffering from adrenomyeloneuropathy (AMN), a phenotype of adrenoleukodystrophy (ALD) is described. He is a member of a family with variable expression of ALD. Diagnosis was confirmed by showing an increase in very long chain fatty acids (VLCFA) in plasma. ALD is an X-linked degenerative disease characterized by progressive demyelination and adrenal insufficiency, in which VLCFA with unbranched carbon chain lengths between 23 and 32 (particularly 26) carbon atoms accumulate, because of impaired capacity to degrade these acids. Currently no methods to stop the demyelination are available. Patients and a substantial number of carriers can be detected by determination of VLCFA in plasma and skin fibroblasts. Detection of carriers will be further improved if presence or absence of the ALD mutation can be made likely by DNA analysis. Recently the diagnosis was made prenatally and confirmed after abortion.