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Zellweger syndrome

Zellweger syndrome is a rare, congenital disorder (present at birth), characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. It is characterized by an individual's inability to beta-oxidize very-long chain fatty acids in the peroxisomes of the cell, due to a genetic disorder in the PEX2 gene. more...

Zadik Barak Levin syndrome
ZAP70 deficiency
Zellweger syndrome
Zollinger-Ellison syndrome

Named after Hans Zellweger, a former professor of Pediatrics and Genetics at the University of Iowa who did research into the disease, it is also called cerebrohepatorenal syndrome.

VL chain fatty acids are generally found in the central nervous system (brain and spinal cord) and the peroxisomes of these cells cannot import the necessary degrative proteins for B-oxidation to occur. Zellweger syndrome is one of a group of genetic disorders called peroxisomal diseases that affect brain development and the growth of the myelin sheath, the fatty covering—which acts as an insulator—on nerve fibers in the brain.

Symptoms are often exhibited at around 1 to 2 years of age. If left untreated Zellweger's syndrome can lead to major mental retardation and death. The other most common features of Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood, and vision disturbances. Some affected infants may show prenatal growth failure. Symptoms at birth may include lack of muscle tone and an inability to move. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur.

There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive. The prognosis for individuals with Zellweger syndrome is poor. Death usually occurs within 6 months after onset, and may be caused by respiratory distress, gastrointestinal bleeding, or liver failure.


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From Archives of Pathology & Laboratory Medicine, 1/1/03 by Chen, Xia

Adrenoleukodystrophy (ALD) is a rare genetic metabolic disorder. It is characterized by progressive dysfunction of the adrenal gland and demyelination of nerve cells in the brain due to impaired peroxisomal function. Peroxisomes are intracellular organelles that contain enzymes necessary for lipid metabolism.1

Adrenoleukodystrophy encompasses 2 rare and distinct genetic disorders, X-linked ALD (an X-linked recessive disorder) and neonatal ALD (an autosomal recessive disorder). In both forms of ALD, high levels of very long chain fatty acids accumulate in various organs due to the absence of peroxisomes. This accumulation is most severe in the brain and adrenal glands, and results in a variety of neurologic problems and endocrine dysfunction.

Impairment of more than one peroxisomal function can lead to a subgroup of even rarer diseases including Zellweger syndrome. This syndrome is an autosomal recessive disorder characterized by facial dysmorphism, neonatal hypotonia, psychomotor retardation, and hepatomegaly, and it is usually fatal in infancy.1 In genetic terms, Zellweger syndrome overlaps neonatal ALD: both disorders are caused by abnormalities of the same genes.

In patients with ALD, the adrenal glands are of normal shape, but small. Each gland usually weighs less than 2 g,2,3 but its architecture is preserved. The diminutive size of the adrenal gland in ALD has been attributed to an (as yet incompletely explained) "adrenalytic" process,2 referring to the dystrophy implied in the term ALD.

Histologically, the adrenal cortex shows changes mainly in the zona fasciculata and zona reticularis. These changes consist of variably enlarged cortical cells, with abundant striations and macrovacuoles in the cytoplasm. The "balboning" of cells, considered pathognomonic for ALD, is a result of accumulation of smooth endoplasmic reticulum and lipid material. The ballooned cells may form nodules. The nucleus may be either vesicular or hyperchromatic. The zona glomerulosa and adrenal medulla are minimally affected in ALD.

The accompanying images are of an adrenal gland affected by ALD, from the autopsy of a male infant diagnosed with Zellweger syndrome. The infant was the only child of a homeless mother. He had failed to thrive since birth and had developed seizure disorder, hypotonia, jaundice, and hepatosplenomegaly. The diagnosis was made based on this constellation of clinical manifestations. The infant died of sepsis and respiratory failure 10 weeks after birth.

Autopsy showed the presence of abnormal adrenal glands and multiple congenital abnormalities. Both left and right adrenal glands were small, with normal shape, and weighed 0.3 and 0.2 g, respectively (Figure A; bar, 1 nun). Histologic examination of the adrenal gland showed nodules composed of variably enlarged cortical ballooned cells with abundant waxy cytoplasm that were arranged in a pseudotubular pattern in the inner portion of the cortex (Figures B, C, and D show progressively higher-power magnifications of the affected adrenal glands, hematoxylin-eosin stain). Normal zonation of the gland was not evident. The adrenal medulla was not affected (Figure B).

The other abnormalities found at autopsy included simian creases, low-set ears, and frontal bossing. We also noted thymic hypoplasia, bilateral undescended testis, hepatosplenomegaly, intrahepatic paucity of bile ducts, and extrahepatic biliary atresia with marked cholestasis. We rendered a postmortem diagnosis of ALD, in the setting of Zellweger syndrome.


1. Moser HW, Moser AB, Chen WW, Watkins PA. Adrenoleukodystrophy and Zellweger syndrome. Prog Clin Biol Res. 1990;321:511-535.

2. Powers JM, Schaumburg HH. The adrenal cortex in adrenoleukodystrophy. Arch Pathol. 1973;96:305-310.

3. Lloyd RV, Douglas BR, Young WF. Endocrine Diseases. Washington DC: Armed Forces Institute of Pathology; 2002:203-205. Atlas of Non-tumor Pathology.

Xia Chen, MD; Ronald A. DeLellis, MD; Syed A. Hoda, MD

Accepted for publication July 22, 2002.

From the Departments of Pathology, New York Presbyterian Hospital & Weill Medical College of Cornell University, New York, NY (Drs Chen and Hoda) and Rhode Island Hospital, Brown University School of Medicine, Providence, RI (Dr DeLellis).

Reprints: Xia Chen, MD, New York-Presbyterian Hospital & Weill Medical College of Cornell University, Starr 1028, Box 93, 525 E 68th St, New York, NY 10021 (e-mail:

Copyright College of American Pathologists Jan 2003
Provided by ProQuest Information and Learning Company. All rights Reserved

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