Introduction: It has been stimated that up to 30% of idiopathic Addison disease in young boys is due to X-linked Adrenoleukodystrophy. We report the case of a 31-year-old previously asymptomatic man, who presented with hyperpigmentation and fatigue. Investigations revealed hyponatraemia (116 mEq/l), low serum cortisol (2.6 μg/ml) and high ACTH levels (>2000 pc/ml), plasma potassium was 4.37 mEq/l. Adrenal antibodies were absent and abdominal computerized tomography scan showed only atrophied adrenal glands. He started hormone replacement theraphy but 2 months later he developed, mild cognitive impairment, behavioural disturbances and abnormal sphincter control. Cerebral MRI imaging showed altered signal intensities on the pontine area. The diagnosis of adrenomyeloneuropathy was confirmed by raised circulating concentrations of very long chain fatty acids (VLCFA). (C22: 2.13 mcg/ml (0.180.48) C24:O/C22:O: 1.38 (<1.00) C266:O/C22:O: 0.09 (<0.02)). Genetic testing showed a missense mutation causing asparragine to tyrosine exchange at position 289 (A289T) of ALD protein, that to our knowledge has not yet been described .30 ml/day of lorenzos oil was added, 2 months later is VLCFA levels were lower (C26: 1.21 mcg/ml C24:O/C22:O: 1.1 C26:O/C22:O: 0.07) and no neurological progression was observed.
Conclusions: Adrenoleukodystrophy should be considered in young adults with a primary adrenal insufficiency of unknown etiology. Lorenzos oil may be effective in reducing very long chain fatty acids in plasma. Although no clinically significant neurological improvement was observed in our patient, more studies are clearly needed to establish a potential role of this therapy
30 Apr - 04 May 2011
European Society of Endocrinology