Abstract
A 12 year old boy who presented with rapid onset of blindness and underlying Addison's disease recovered vision during maintenance with hydrocortisone and fludrocortisone acetate. At age 21 he remains clinically and neurologically well with the exceptions of red central scotomata and bilateral flexor plantar responses. Fibroblast assay revealed increased levels of saturated very long chain fatty acids and plasma hexacosanoate (C26 fatty acid) represented 0.048% total fatty acid with a C26/C22 ratio of 0.065, characteristics of ALD hemizygosity.
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