Background: Adrenoleukodystrophy (ALD) is an X-linked disease characterized by impaired β-oxidation of very long-chain fatty acids (VLCFA) and in the most severe cases by inflammatory demyelination in the brain, adrenocortical insufficiency (AI), and death. Seven phenotypes were described, with a higher prevalence of the cerebral forms.
Case report: We report two cases of ALD with different evolution, in February 2014. First case, an 11 years old boy with normal early development and a history of head trauma at the age of 8, presented progressive cognitive (declining school performance, and behavioral changes) and neurological (visual disturbances, seizures, and slowly progressive tetraparesis) perturbations, slightly ameliorated with ASEA (redox molecules). After ruling out other neurological disorders and infections, the suposition of ALD was confirmed by brain MRI (specific white matter lesions) and increased VLCFA. No family history could be found. In the absence of clinical signs, the laboratory testing (normal cortisol and high ACTH>1250 pg/ml) diagnosed subclinical AI. Second case, 27 years old man, with family history of ALD (one sister with genetic confirmation, and two deceased male nephews at the age of 8) and onset of progressive neurological (spastic paraparesis) and cognitive (behavioral changes) perturbances at the age of 18. The clinical findings of AI (hyperpigmentation of the skin, low blood pressure, and astenia) were biologically confirmed (ACTH>1250 pg/ml, cortisol=7.36 ng/dl) and treated with substitutive doses of glucocorticoids.
Conclusion: The clinical presentation of ALD is highly variable and without accurate diagnosis, ALD will continue to spread and mystify the medical professionals. Early diagnosis has important implications for genetic counseling and management. The eventual phenotype in an individual will be determined by the combination of several epigenetic and environmental modifiers. More research and new treatments strategies are desperately needed and prenatal testing, biochemical diagnosis to prevent unnecessary new cases of this devastating disease should become available in more countries.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology