hrp0082p2-d3-508 | Perinatal and Neonatal Endocrinology | ESPE2014

Various Presentations of X-linked Adrenoleukodystrophy: Case Reports

Fadur Alina Daniela , Constantinescu Aurora , Rusu Cristina , Manolachie Adina , Bodescu Ioana , Branisteanu Dumitru D , Preda Cristina , Mogos Voichita , Vulpoi Carmen

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...