Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locus

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Abstract
Cerebral sclerosis and Addison disease were observed at age 14 yr in a previously healthy sister of an affected boy. Clinical findings and family history established the diagnosis of X-linked adrenoleukodystrophy, which is normally confined to males. The affected female has a normal karyotype; both X chromosomes are morphologically inconspicuous. This patient may be the 1st documented example of clinically manifest adrenoleukodystrophy in a heterozygote, which supports the previous conclusion that this X-linked locus is subject to inactivation.