Home   Chapter Home   Jobs   Conferences   Fellowships   Books

Advertisement

Adrenal gland and paraganglia

Congenital anomalies

Storage diseases

Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 6 February 2013, last major update February 2005
Copyright: (c) 2002-2013, PathologyOutlines.com, Inc.

Adrenoleukodystrophy

General
=========================================================================

● Also called Addison-Schilder’s 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 20’s; adrenal insufficiency, but no neurologic disorder at initial presentation; develop weakness, spasticity and distal polyneuropathy, slowly progressive

Treatment
=========================================================================

● Dietary therapy (Lorenzo’s oil) may delay neurologic progression

Gross description
=========================================================================

● Atrophic adrenal glands, 1-2 g

Micro 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

Pompe’s disease

General
=========================================================================

● Also called type II glycogenosis
● Infantile form of generalized glycogenosis, due to deficiency of lysosomal acid alpha-1,4-glucosidase
● Intralysosomal glycogen storage in CNS, heart, liver, skeletal muscle, thyroid, parathyroid, pituitary and pancreatic islets
● Also in adrenal cortex and medulla with severe accumulation in zona fasciculata (Arch Pathol Lab Med 1985;109:921)

Wolman’s disease

General
=========================================================================

● Primary familial xanthomatosis
● Rare, autosomal recessive lipid storage disorder
● Due to deficiency of lysosomal acid lipase, causing accumulation of triglycerides and cholesterol esters in liver, spleen and adrenal glands
● Usually causes death by age 6 months

Gross description
=========================================================================

● Markedly enlarged adrenal glands with dystrophic calcifications but normal architecture

Gross images
=========================================================================

Markedly enlarged adrenal glands

Micro description
=========================================================================

● Necrosis, fibrosis and calcification
● Zona fasciculata and reticularis cells have vacuolated cytoplasm

Differential diagnosis
=========================================================================

● Niemann-Pick disease
● Other storage diseases

End of Adrenal gland and paraganglia > Congenital anomalies > Storage diseases

This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patient's clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician.

All information on this website is protected by copyright of PathologyOutlines.com, Inc. Information from third parties may also be protected by copyright. Please contact us at copyrightPathOut@gmail.com with any questions (click here for other contact information).