Table of Contents
Definition / general | Treatment | Gross description | Microscopic (histologic) description | Electron microscopy description | Differential diagnosisCite this page: Pernick N. Adrenoleukodystrophy. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/adrenalstoragediseases.html. Accessed April 18th, 2024.
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
- Autoimmune adrenalitis: lymphocytes but no balloon cells