Adrenoleukodystrophy with disease of the eye and optic nerve

Abstract

Adrenoleukodystrophy is an X-chromosome-linked recessive disease characterized by primary atrophy of the adrenal glands with or without Addison's disease and low plasma cortisol levels, and a degeneration of white matter of the central nervous system with blindness. In suspected cases of adrenoleukodystrophy an impaired rise in plasma cortisol levels after adrenocorticotrophin stimulation may be diagnostic. With the electron microscope, pathognomonic intracytoplasmic lamellar inclusions have been seen in adrenal cortical cells, peripheral nerve Schwann's cells, testicular interstitial cells, and in macrophages of the brain. Adrenoleukodystrophy appears to be a genetically determined lipid storage disease with an error in membrane sterol metabolism. A 10-year-old boy with adrenoleukodystrophy had visual loss, a prominent early symptom. The ocular abnormality consisted of a disproportionate loss of nerve fibers from the macular region. No intracytoplasmic lamellar inclusions were identified in cells representing macrophages within the optic nerve. They contained myelin debris suggestive of end-stage disease.