Adrenal gland and paraganglia
Congenital anomalies
Storage diseases - adrenoleukodystrophy


Topic Completed: 1 February 2005

Revised: 29 May 2019

Copyright: 2002-2019, PathologyOutlines.com, Inc.

PubMed Search: Storage disease adrenoleukodystrophy

See Also: Pompe disease   Wolman disease

Nat Pernick, M.D.
Page views in 2018: 169
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Cite this page: Pernick N. Storage diseases - adrenoleukodystrophy. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/adrenalstoragediseases.html. Accessed July 20th, 2019.
Definition / general
  • Also called Addison-Schilders disease
  • Rare, X linked recessive, affects 1 in 120,000 males
  • Progressive demyelination of central and peripheral nervous system (dementia, blindness, quadriplegia) and adrenocortical insufficiency
  • Due to mutations of adrenoleukodystrophy protein (ADLP) in peroxisomal membrane at Xq28, which causes defective oxidation of long-chain fatty acids; causes accumulation of cholesterol esters and gangliosides in membranes of adrenal cortex, brain and other organs
  • Diagnosis: presence of hexacosanoate and other very long-chain saturated fatty acids in cultured skin fibroblasts
  • Carriers: women may have a variant form of disease or no neurologic symptoms (Arch Pathol Lab Med 1987;111:151)
  • Adrenomyeloneuropathy: related disorder with onset in teens to 20s; adrenal insufficiency, but no neurologic disorder at initial presentation; develop weakness, spasticity and distal polyneuropathy, slowly progressive
Treatment
  • Dietary therapy (Lorenzos oil) may delay neurologic progression
Gross description
  • Atrophic adrenal glands, 1-2 g
Microscopic (histologic) description
  • Ballooning and striation of zona fasciculata and reticularis cells, often in nodules
  • Cells may have large cortical vacuoles and clefts (representing lipid dissolved during processing)
  • Medulla unchanged
  • Other: cerebral white matter exhibits demyelination, inflammation, gliosis and macrophages; also abnormalities of schwann cells in peripheral nerves and Leydig cells in testis
Electron microscopy description
  • Proliferation of smooth endoplasmic reticulum and trilaminar lamellar inclusions
Differential diagnosis
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