Adrénoleucodystrophie liée à l'X chez une proposante symptomatique : présentation clinique, diagnostic biologique et conséquences familiales

Conclusion. - ALD diagnosis should be evoked in a woman affected by myelopathy despite the lack of family history. Such a diagnosis has severe consequences since some of the related males may carry the mutation although they do not display any symptom at time of diagnosis, and because carrier females have a risk to both have a clinical expression of the disease and give birth to an affected boy.