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PubMed1996

[Cerebrotendinous xanthomatosis: utility of nuclear magnetic resonance image in the follow-up and response to treatment].

INTRODUCTION: Cerebrotendinous xanthomatosis is an inherited autosomal recessive lipid storage disease. Clinical features include tendon xanthomas, premature cataracts and progressive neurologic dysfunctions. Substantial elevation of serum cholestanol and urinary bile alcohols and their precursors establishes the diagnosis. Magnetic resonance image (MRI) is useful for diagnosis of cerebral and tendinous lesions. Treatment with chanodeoxycholic acid (CDCA) has been reported to correct biochemical abnormalities and to arrest and possibility to reverse the progression of the neurologic symptoms in some patients. CLINICAL CASE: We present the case of a 34-year-old male suffering from ataxia and enlargement of both Achilles tendons suggestive of cerebrotendinous xanthomatosis. The findings of elevated serum cholestanol and urinary bile alcohols confirmed clinical suspicious. Cranial and tendinous MRI evidenced cerebral, cerebellar, medullar and tendinous lesions. The patient received treatment with CDCA for 42 months (750 mg/day), with improvement in neurologic symptoms, correction of analytical parameters and cerebellar and medullar lesions at MRI. CONCLUSION: In cerebrotendinous xanthomatosis, treatment with CDCA reduces serum cholestanol and arrest neurologic symptoms progression. In accordance with clinical evolution and analytical normalization, we point out he utility of MRI in the surveillance and response to treatment with CDCA.

Achilles Tendon↗

PubMed1997

Segmental xanthomatosis of the ileocecal valve with anatomic and functional obstruction.

A case of intestinal obstruction due to segmental xanthomatosis involving the small intestine and colon at the ileocecal valve is described in a patient with acquired immunodeficiency syndrome. Infiltration of the bowel wall with lipid-laden histiocytes is documented and is associated with severe attenuation and disruption of the muscularis propria. This xanthomatous infiltrate resulted in luminal stenosis and dysfunctional motility. Segmental xanthomatosis of the bowel is a rare cause of intestinal obstruction due to an infiltrative process. The clinical, radiologic, and pathologic presentation of xanthomatosis may mimic other causes of bowel obstruction.

Acquired Immunodeficiency Syndrome↗

PubMed2002

Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations.

This mini-review deals with a new appraisal of cerebrotendinous xanthomatosis. In addition to neurologic symptoms, patients with cerebrotendinous xanthomatosis develop cataracts, diarrhea, Achilles tendon xanthoma, atherosclerotic vascular disease, and many other abnormalities. Although the pathophysiology of the disease is not completely understood, excess production and consequent accumulation of cholestanol in tissues may play a crucial role. Chenodeoxycholic acid is the most effective therapy. The causative role and detrimental effects (at a low plasma level) of cholestanol merit further investigation.

Brain Diseases↗

PubMed1986

Chronic demyelinating peripheral neuropathy in cerebrotendinous xanthomatosis.

Three siblings with chemically proved cerebrotendinous xanthomatosis presented with typical neurological manifestations of dementia and spinocerebellar disorder. Electrodiagnostic tests revealed demyelinating neuropathy in all three. Sural nerve biopsies showed loss of myelinated large fibers, marked Schwann cell proliferation, and onion bulb formation. Teased-fiber preparations confirmed the occurrence of segmental demyelination and remyelination. We suggest that demyelinating neuropathy is part of the neurological spectrum of cerebrotendinous xanthomatosis and should be considered in the differential diagnosis of a recessively inherited motor and sensory neuropathy.

Adolescent↗

PubMed2005

Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues.

Dietary sitostanol has a hypocholesterolemic effect because it decreases the absorption of cholesterol. However, its effects on the sitostanol concentrations in the blood and tissues are relatively unknown, especially in patients with sitosterolemia and xanthomatosis. These patients hyperabsorb all sterols and fail to excrete ingested sitosterol and other plant sterols as normal people do. The goal of the present study was to examine the absorbability of dietary sitostanol in humans and animals and its potential long-term effect. Two patients with sitosterolemia were fed the margarine Benecol (McNeill Nutritionals, Ft. Washington, PA), which is enriched in sitostanol and campestanol, for 7-18 wk. Their plasma cholesterol levels decreased from 180 to 167 mg/dL and 153 to 113 mg/dL, respectively. Campesterol and sitosterol also decreased. However, their plasma sitostanol levels increased from 1.6 to 10.1 mg/dL and from 2.8 to 7.9 mg/dL, respectively. Plasma campestanol also increased. After Benecol withdrawal, the decline in plasma of both sitostanol and campestanol was very sluggish. In an animal study, two groups of rats were fed high-cholesterol diets with and without sitostanol for 4 wk. As expected, plasma and liver cholesterol levels decreased 18 and 53%, respectively. The sitostanol in plasma increased fourfold, and sitostanol increased threefold in skeletal muscle and twofold in heart muscle. Campestanol also increased significantly in both plasma and tissues. Our data indicate that dietary sitostanol and campestanol are absorbed by patients with sitosterolemia and xanthomatosis and also by rats. The absorbed plant stanols were deposited in rat tissues. Once absorbed by sitosterolemic patients, the prolonged retention of sitostanol and campestanol in plasma might increase their atherogenic potential.

Adolescent↗

PubMed1981

A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia.

An adult Chinese man presented with tendinous and tuberous xanthomatosis and severe atheromatous changes in the coronary arteries. In addition, he had chronic hemolytic anemia, with spherostomatocytic erythrocytes. Cerebrotendinous xanthomatosis was diagnosed on the basis of increased cholestanol levels in his plasma, red cells and xanthoma, changes in bile acid composition due to the defective synthesis of chenodeoxycholic acid. Coexisting beta-sitosterolemia was confirmed by the finding of large amounts of the plant sterols such as beta-sitosterol and campesterol. This is the first report of these two rare lipid storage disorders in the same patient.

Adult↗

PubMed1983

Normolipemic subcutaneous xanthomatosis.

A patient with diabetes mellitus is described in whom an unusual xanthomatosis developed involving large areas of the subcutaneous tissue and vocal cords. Few lesions were present on the skin. Plasma lipid, lipoprotein, apolipoprotein, and cholestanol levels revealed normal patterns. Electron microscopy showed macrophages with vacuolar and crystal lipid inclusions. Results of lipid and enzyme analysis of the subcutaneous xanthoma were similar to those of xanthomas derived from a patient with diabetes mellitus and type V hyperlipidemia. The mechanism of this xanthomatosis remains unknown.

Diabetes Complications↗

PubMed1984

Capillary gas chromatographic determination of cholestanol/cholesterol ratio in biological fluids. Its potential usefulness for the follow-up of some liver diseases and its lack of specificity in diagnosing CTX (cerebrotendinous xanthomatosis).

The concentration ratios of cholestanol/cholesterol in biological materials (serum, cerebrospinal fluid and tendon biopsy) were determined using a capillary gas chromatographic method. The method was validated by gas chromatography-mass spectrometry. The ratio was determined in several groups of patients: (a) patients with cerebrotendinous xanthomatosis (in serum, cerebrospinal fluid and tendon biopsy), before and during chenodeoxycholic acid therapy, (b) patients receiving cholestyramine therapy (in serum), (c) patients suffering from various liver diseases (in serum) and (d) one patient before and after liver transplantation (in serum). It can be concluded that the cholestanol/cholesterol concentration ratio is a potentially useful parameter for monitoring liver diseases but is not specific for establishing the diagnosis of cerebrotendinous xanthomatosis.

Brain Diseases, Metabolic↗

PubMed1985

Bile acid therapies applied to patients suffering from cerebrotendinous xanthomatosis.

Patients suffering from cerebrotendinous xanthomatosis, an inborn error of metabolism in bile acid synthesis, were given oral treatment with chenodeoxycholic acid, ursodeoxycholic acid, cholic acid and taurocholic acid. The effectiveness of the different therapies was evaluated by measuring the urinary excretion of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,23,25-pentol, which should decrease, when the administered bile acid is able to suppress endogenous bile acid synthesis. From the results it is concluded that chenodeoxycholic acid and cholic acid activate the bile acid negative feedback mechanism, contrary to ursodeoxycholic acid and taurine conjugated cholic acid. Either cholic acid or chenodeoxycholic acid are the therapies of choice for the treatment of cerebrotendinous xanthomatosis. For various reasons the use of cholic acid is especially recommended.

Adult↗

PubMed1987

Multicentric reticulohistiocytosis, another lipid disorder with normolipidemic xanthomatosis?

This report describes a 72-year-old female patient with 2 types of severely disfiguring xanthomas, particularly on the facial area and the upper arms. Biopsy revealed xanthoma-type cells, histiocytes, and multiple giant cells. The soft yellowish facial xanthomata were rich in esterified cholesterol, whereas the cholesterol content of the colorless, firm, fibrous xanthoma of the arms was relatively low. The clinical course of insidiously starting polyarthritis, the formation of skin and tendon xanthomas (at the age of 63) and, finally, the histological findings verified the diagnosis of multicentric reticulohistiocytosis. The family history and findings were noncontributory. The patient had symptoms of moderate coronary heart disease and died from an acute myocardial infarction. Her total cholesterol and triglyceride levels were 182 and 89 mg/dl, and the HDL cholesterol value was 43 mg/dl. Plasma levels of apolipoprotein A-I, A-II and B were normal, and her apoprotein E pattern was E3/E3. The triglyceride/cholesterol ratio of VLDL, the concentration of apo-LDL (LDL protein) and the LDL-protein/cholesterol ratio were normal. The apo-LDL production, the total clearance rate of apo-LDL, and the receptor-mediated and receptor-independent catabolism of LDL were also normal. Fecal output of neutral sterols and bile acids and the total body cholesterol synthesis were normal, but cholesterol absorption tended to be increased. The response to cholestyramine treatment showed a 44% decrease in the serum cholesterol level and a normal 5-fold increase in cholesterol synthesis. The patient's xanthoma formation could not be associated with any of the causes known to promote the development of normolipidemic xanthomatosis. It is suggested that multicentric reticulohistiocytosis should be considered in the differential diagnosis of patients with normolipidemic xanthomatosis.

Aged↗

PubMed1995

Atypical xanthomatosis in apolipoprotein E-deficient mice after cholesterol feeding.

Apolipoprotein (apo) E-deficient mice were fed a hypercholesterolemic diet for 14 weeks. Mean serum cholesterol levels rose to 37.5 mM. Upon complete necroscopy, massive xanthomatous lesions were noticed in various tissues, with a predilection for subcutaneous and peritendinous tissues, while control animals on the same diet (3.4 mM serum cholesterol) and apo E-deficient mice on a regular chow diet (20 mM serum cholesterol) did not show such lesions. Also, apo E3-Leiden transgenic mice fed a high fat diet, with 60 mM of serum cholesterol, did not exhibit any xanthomatosis. The xanthomatous lesions found in the Apoe knock-out mouse clearly differed in location from xanthomas previously found in low density lipoprotein receptor-deficient mice. We conclude that the lack of apo E results in atypical disseminated xanthomatosis, suggesting that apo E has an important role in determining the tissue distribution of cholesterol deposition.

Animals↗

PubMed1979

Normocholesterolemic dysbetalipoproteinemia with xanthomatosis.

A patient is described who has marked palmar xanthomatosis associated with a normal concentration of plasma cholesterol. Analysis of xanthomas revealed them to contain large quantities of cholesterol with both intra- and extracellular lipids. Examination of plasma lipoproteins showed them to be consistent with a pattern of dysbetalipoproteinemia (Type III hyperlipoproteinemia). VLDL had beta-mobility on electrophoresis, a high cholesterol/triglyceride ratio, and increased apoprotein B. However, arginine-rich apoprotein was not increased in VLDL, in contrast to hypercholesterolemic patients with the Type III pattern. Nevertheless, the E3 subfraction of the arginine-rich apoprotein was virtually absent, which is characteristic of dysbetalipoproteinemia. Cholesterol and bile acid synthesis were in the normal range. Thus, of particular interest was the development of severe xanthomatosis without hypercholesterolemia in this patient. Therefore, tissue accumulation of cholesterol was apparently the result of a qualitative abnormality in lipoproteins and not due to an excess of plasma cholesterol.

Adult↗

PubMed1981

Normolipidemic planar xanthomatosis associated with benign monoclonal gammopathy.

This report describes a patient with advanced planar xanthomatosis and benign monoclonal gammopathy who had normal plasma concentrations of cholesterol and triglycerides (TG). Decreased electrophoretic mobilities of very low density lipoprotein (VLDL), intermediate density lipoproteins (IDL) and chylomicrons were found. No changes in electrophoretic mobility were found for low density lipoprotein (LDL) and high density lipoproteins (HDL). The patient's disease was associated with a progressive decline in plasma-TG and VLDL-TG over a 2 yr period. He also appeared to develop an increased rate of clearance of VLDL-TG and chylomicrons. These changes in the metabolism of TG-containing lipoproteins were unaccompanied by alterations in the synthesis of either cholesterol or bile acids. The observations in this patient led us to the conclusion that his normal to low levels of VLDL-TG could be explained by both enhanced tissue uptake and increased lipolysis of VLDL-TG. The most likely explanation for these findings is that the patient had immune complexes between his TG-rich lipoproteins and an abnormal monoclonal gamma globulin. This patient is another example of an expanding group of subjects in whom xanthomatosis can develop without hyperlipidemia.

Cholesterol↗

PubMed1995

Determination of the glucurono-conjugated position in bile alcohol glucuronides present in a patient with cerebrotendinous xanthomatosis.

The determination of the glucurono-conjugated position in three bile alcohol glucuronides secreted in bile of a patient with cerebrotendinous xanthomatosis was carried out by a nuclear magnetic resonance study. The bile sample was extracted with ethanol and chromatographed on an ion-exchange column, a reverse-phase partition column and a silica gel column to isolate glucurono-conjugates of 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 25-tetrol, 5 beta-cholestane-3 alpha, 7 alpha 12 alpha, 23-tetrol, and 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 23, 25-pentol. Proton and 13C nuclear magnetic resonance spectra of the two biliary bile alcohol glucuronides, 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 25-tetrol glucuronide and 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 23, 25-pentol glucuronide were identical with those of the synthetic glucuronide 7 alpha, 12 alpha, 25-trihydroxy-5 beta-cholestane-3 alpha-O beta-D-glucopyranosyluronic acid and the isolated glucuronide 3 alpha, 7 alpha, 12 alpha, 25-tetrahydroxy-5 beta-cholestane-23-O-beta-D-glucopyranosyluronic acid from urine of a patient with cerebrotendinous xanthomatosis, respectively. Hence, the glucurono-conjugated positions of the biliary 25-tetrol glucuronide and the biliary 23,25-pentol glucuronide were C-3 and C-23, respectively. By comparison of the 13C chemical shift data with that of the unconjugated bile alcohol, 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 23-tetrol, the glucurono-conjugated position of the natural 23-tetrol glucuronide was determined to be C-23. Thus, the natural 23-tetrol glucuronide can be formulated as 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestane-23-O-beta-D-glucopyranosyluronic acid.

Bile↗

PubMed1995

Normolipemic papular xanthomatosis in erythrodermic atopic dermatitis.

We describe papular xanthomatosis that progressively developed in a patient with long-standing erythrodermic atopic dermatitis and normal lipid metabolism and without an associated systemic disease. Light microscopy showed a lobulated aggregate of sometimes foamy histiocytes. Ultrastructurally, these histiocytes contained lipid inclusions and lacked features of Langerhans or epithelioid cells. Other granulomatous skin diseases such as tuberculosis, sarcoidosis, or foreign body granuloma were excluded by histologic study, polarizing microscopic examination, electron microscopy, and microbiologic investigations. Nevertheless, these xanthomas showed an antigen expression pattern similar to that found in noninfectious granulomas (CD1a-, MS-1-, CD11c+, MRP-8/-14+, 25F9+, RM 3/1+/-, CD36(+), indicating that normolipemic papular xanthomatosis may be reactive process and should not be included among the true cutaneous non-Langerhans cell histiocytoses.

Adolescent↗

PubMed1986

Increased (23R)-hydroxylase activity in patients suffering from cerebrotendinous xanthomatosis, resulting in (23R)-hydroxylation of bile acids.

Patients suffering from cerebrotendinous xanthomatosis, an inborn error of metabolism in bile acid synthesis, excrete excessive amounts of 23-hydroxylated bile alcohols, 23-norcholic acid and 23-hydroxycholic acid into urine. In this study the configuration of this excreted 23-hydroxycholic acid was established as (23R)-hydroxycholic acid. Urine samples of two treated patients, receiving chenodeoxycholic acid, were investigated to see whether this administered bile acid was partly converted into 23-hydroxychenodeoxycholic acid. One patient was treated with ursodeoxycholic acid for 1 month and subsequently with chenodeoxycholic acid, and the urinary excretion of both (23R)-hydroxychenodeoxycholic acid and (23R)-hydroxyursodeoxycholic acid were followed. Indeed, all three patients excreted (23R)-hydroxylated chenodeoxycholic acid during oral treatment with chenodeoxycholic acid, and the patient treated with ursodeoxycholic acid excreted (23R)-hydroxylated ursodeoxycholic acid. During treatment with chenodeoxycholic acid the excretion of (23R)-hydroxychenodeoxycholic acid increases at first and later on decreases markedly. These findings suggest increased (23R)-hydroxylase activity in patients suffering from cerebrotendinous xanthomatosis, acting both on endogenously synthesized bile alcohols and on exogenously administered bile acids; during continuation of chenodeoxycholic acid treatment in an effective dose (750 mg/day) this enzyme activity gradually disappears.

Adult↗

PubMed1998

Dietary cholesterol-induced xanthomatosis in atherosclerosis-susceptible Japanese quail (Cotunix japonica).

Japanese quail of a strain (SUS) susceptible to dietary cholesterol-induced atherosclerosis were fed a diet supplemented with cholesterol (0.5% w/w) for 4, 8 or 12 weeks. Plasma cholesterol increased significantly from 240-1550 mg/dl at 4 weeks and remained at that concentration for 8 and 12 weeks on the same diet. Plasma triglycerides (TGs) increased from 112-384 mg/dl after 4 weeks but showed no significant increases thereafter. Striking eruptive xanthomatous lesions were noticed on the feet of 50% of these birds at 4 weeks, and the percentage of birds affected increased to 85 after 12 weeks on the cholesterol-supplemented diet. This is the first report of xanthomatosis in birds. These birds had also developed atherosclerotic plaques in the aorta and brachiocephalic arteries by 4 weeks. There was no significant correlation between xanthoma scores and plasma cholesterol and TG concentrations at any of the three sampling periods (4, 8 and 12 weeks of cholesterol feeding). There was, however, a significant negative correlation (r = -0.61) between xanthoma scores and atherosclerotic plaque scores at 4 weeks. The correlation became non-significant at later stages of cholesterol exposure. Similarities between mammalian and SUS Japanese quail xanthomatosis may make the SUS quail a useful model for the study of this disorder.

Animals↗

PubMed1985

Isolated xanthomatosis of the small bowel.

A case of xanthomatosis of the small bowel is described. Beginning with the proximal jejunum, an 85-cm segment of small bowel was distorted by regularly spaced nodular accumulations of lipid-laden macrophages that expanded the submucosa and muscularis and extended to the serosal surface. The conditions often associated with xanthomatosis were not found in this patient.

Humans↗