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.
ALD has been differentiated from Adrenomyeloneuropathy (AMN), the latter involving the older male with slowly progressive spastic paraparesis, distal symmetrical polyneuropathy and variable hypogonadism; both associate with Addison's disease. Whether this patient made the transition from one (ALD) to the other (AMN) or whether he now shows the new pattern of a third disease with adrenal anergy, deferred central nervous system decay and excessive collection of saturated very long chain fatty acids, remains questionable. Hypothetical recovery from ALD seems least likely, a possibility that might result from a third allele diminishing accumulated levels of very long chain fatty acids.
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Carpenter, G., Graziani, L., Moser, H. et al. ADRENOLEUKODYSTROPHY (ALD) WITH TRANSIENT AMAUROSIS WITHOUT CLINICAL DEGENERATION, A DISEASE VARIANT OR THIRD ALLELE. Pediatr Res 18 (Suppl 4), 374 (1984). https://doi.org/10.1203/00006450-198404001-01687
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DOI: https://doi.org/10.1203/00006450-198404001-01687