Intra familial phenotypical variations in adrenoleukodystrophy.

[adrenomyeloneuropathy]

Adrenoleukodystrophy (ALD ) is an X-linked recessively inherited peroxisomal disorder , characterized by progressive white -matter demyelination of the central nervous system and adrenocortical insufficiency . It has a wide phenotypical variability ranging from symptomatic childhood cerebral form to the asymptomatic with biochemical defects only ; sometimes within the same family . We report a family of three siblings diagnosed with ALD confirmed with the mutations in ABCD 1 gene having phenotypical variability ranging from pure adrenal insufficiency to progressive neurodegeneration in the same family . The mother was identified as the carrier and maternal uncle was diagnosed with Adrenomyeloneuropathy . We discuss the variable presentation in our family and the possible causes of phenotypical variability .