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