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 CASE REPORT
Year : 2010  |  Volume : 58  |  Issue : 1  |  Page : 109--111

Intra familial phenotypical variations in adrenoleukodystrophy


1 Department of Pediatric Neurology, University Hospitals of Leicester NHS Trust, United Kingdom
2 Clinical Fellow in Pediatric Neurology, Leicester Royal Infirmary, Leicester, United Kingdom

Correspondence Address:
Anand Prasad Balky
Flat 11, Room 4, Douglas court,Walnut Street Leicester
United Kingdom
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.60418

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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 ABCD1 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.






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Online since 20th March '04
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