SEARCH · PubMed Health

Results for “XANTHOMATOSIS”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 127 records · Page 7Linked to original sources

PubMed2006

New insights into the pathological mechanisms of cerebrotendinous xanthomatosis in the Taiwanese using genomic and proteomic tools.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by a deficiency of the mitochondrial sterol 27-hydroxylase. Genetic analysis utilizing SSCP and direct DNA sequencing identified a new mutation. One base-pair of cytosine was deleted at codon 326 on exon 2 of CYP27 in all CTX patients while their father was heterozygotic. This novel point deletion predicts a frameshift in mRNA (Pro(102) -->Leu) and results in the appearance of a premature termination codon (TGA) to substitute for Val(106) (GTG). To characterize the pathological mechanism of CTX patients, the protein profiles of serum and leukocytes extracted from these subjects were presented by means of proteomic technologies including 2-DE and MALDI-TOF analysis. According to the results, the amount of vinculin, ABP-280, talin and vimentin in leukocytes of CTX patients had changed significantly, reflecting the changes in membrane dynamics concerning cholestanol accumulation. The expression of target proteins in CTX patients and control was further verified by western blotting which indicated the same tendency as 2-DE data. This is the first paper to integrate both genomic and proteomic concepts for analyzing the possible mechanism of CTX and provides more information for related study in the future.

Amino Acid Sequence↗

PubMed1993

Xanthoma disseminatum: a rare normolipemic xanthomatosis.

Xanthoma disseminatum (XD) is a rare benign histiocytic disorder with extensive cutaneous and mucous membrane xanthomas in normolipemic patients. We describe the 9-year course of a 25-year-old white man who presented with multiple brownish-reddish papulous skin tumors that developed over 3 years and remained relatively constant, with spontaneous regression and progression of individual lesions since. In addition, there was asymptomatic xanthomatous infiltration of the epipharnyx and symptomatic infiltration of the synovial membrane of the left knee joint leading to restriction of movement. Histologically, the corium was infiltrated by large lipid-storing macrophages, polynucleated histiocytic giant cells of the Touton and the foreign body type. Immunhistochemically, the lipid-storing cells could be classified as macrophage/monocyte derived cells distinctly different from Langerhans' cells without proliferative activity. The clinical picture and course as well as laboratory findings indicating normolipidemia made it possible to differentiate XD from other normolipemic xanthomatosis, especially juvenile xanthogranuloma, eruptive histiocytoma, and histiocytosis X. The etiology of XD is still unknown. It is possible to differentiate xanthoma disseminatum from malignant histiocytosis X by the clinical picture and immunhistochemical studies. Thus it is no longer justified to administer cytostatic treatment for this disorder.

Adult↗

PubMed1991

Computed tomography of tendinous xanthomata in cerebrotendinous xanthomatosis.

Tendinous xanthomata with maximum expression on Achilles tendons are a characteristic feature of cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. Twenty patients are under review; three of them, at different stages of the disease, underwent computed tomographic (CT) examination. CT demonstrates with a high degree of accuracy the increased size of the tendon and its heterogeneous structure resulting from cholesterol and cholestanol crystal deposits.

Achilles Tendon↗

PubMed1995

Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene (CYP27). So far several mutations causing CTX have been identified and characterized. A new mutation creating an insertion of cytosine at position 6 in the cDNA, which is expected to result in a frameshift and a premature termination codon at codon 179, has been identified in a French family. The mutation creates a new site for the restriction endonuclease HaeIII.

Adult↗

PubMed1995

The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature.

Cerebrotendinous xanthomatosis (CTX), a rare autosomal-recessive lipid storage disease, has been well characterized clinically and biochemically, and recently also from the molecular biological aspect. However, only a very few publications deal with its neuropathology, and views on its pathogenesis vary. Based on a recently examined case, we propose that central-peripheral distal axonopathy is the major pathogenetic mechanism of nervous system injury in CTX. The latter is characterized by white matter pathology, typically in form of long tract involvement with the more distal parts of the tract more severely affected. Most severely affected are the cerebellar white matter, the optic pathways and the long tracts of the brain stem and spinal cord, particularly the pyramidal tracts, although there is hardly a CNS region which does not display some form of pathology. Lesions are characterized by loss of myelinated fibers and accumulation of lipid products in form of foamy macrophages, clear oil-red-O-positive spaces and crystalline clefts, accompanied by gliosis, occasional axonal spheroids, and in the cerebellum--the most severely affected structure--also by multi-nucleated foreign body giant cells. Demyelination is not seen, and ultrastructurally myelin sheaths are normally structured. Signs of axonal degeneration are also present in the spinal roots. We hypothesize that the basic enzymatic defect in CTX leads to accumulation of metabolites in the brain which may be neurotoxic and may impair the metabolic apparatus of neurons with resultant axonopathy and subsequent nonspecific lipid deposition in the injured tracts.

Adult↗

PubMed1990

Cerebrotendinous xanthomatosis: clinical, electrophysiological and nerve biopsy findings, and response to treatment with chenodeoxycholic acid.

A 30-year-old patient with cerebrotendinous xanthomatosis was studied over a 6-year period. The clinical manifestations were cataracts, intellectual deterioration, ataxia, palatal and pharyngeal myoclonus, corticospinal tract damage and an electrophysiologically demonstrated sensorimotor peripheral neuropathy. Peripheral motor and sensory nerve conduction velocity was slowed. Sural nerve biopsy revealed reduced densities of both myelinated and unmyelinated axons and teased fibres showed evidence of axonal regeneration and some remyelination. The loss of myelinated nerve fibres particularly affected those of larger diameter, thus contributing to the slowing of nerve conduction. Chenodeoxycholic acid treatment for two separate periods of 10 and 6 months each increased nerve conduction velocity. This electrophysiological improvement was not matched by detectable clinical neurological improvement.

Adult↗

PubMed1992

Cerebrotendinous xanthomatosis: cranial CT and MRI studies in eight patients.

We report the findings on cranial computed tomography (CT) and magnetic resonance imaging (MRI) and their correlation with the clinical manifestations, disease severity and biochemical abnormalities in eight patients with cerebrotendinous xanthomatosis. CT revealed cerebral atrophy in seven cases, cerebellar atrophy in four and focal low density lesions in the cerebral white matter in two. T2-weighted MRI showed high signal lesions in the cerebral white matter, focal in four cases and diffuse in one, and in the globus pallidus in three patients, two of whom also had lesions in the cerebellar white matter. While severely affected patients showed variable CT and MRI abnormalities, our cases did not show the dramatic findings expected from the neurological manifestations. Diffuse lesions in the cerebral and cerebellar white matter have been emphasized in previous reports, but in our study the focal lesions in the cerebral white matter were also present; the globus pallidus was frequently involved.

Achilles Tendon↗

PubMed1979

De- and remyelination and onion bulb in cerebrotendinous xanthomatosis.

In a case of cerebrotendinous xanthomatosis (CTX), confirmed biochemically and histologically quantitative histological studies of the biopsies sural nerve revealed significantly higher incidence of de- and remyelination and onion bulb than in controls. The density of total myelinated fibers fell within the range of controls, although the density of large myelinated fibers seemed to be slightly decreased. It was suggested that the preferential involvement of the myelin sheath and Schwann cell may exist in CTX.

Adult↗

PubMed1995

Gallium uptake in cerebrotendinous xanthomatosis.

In a patient with cerebrotendinous xanthomatosis, a rare familial sterol storage disease, increased uptake of gallium-67 was observed in the tendon xanthomas. This is considered to have resulted from the tumour-like proliferation of histiocytic cells in the xanthomas. Abnormalities in the white matter of the cerebellum and the brain stem observed by X-ray computed tomography and magnetic resonance imaging were not detected by 67Ga scintigraphy, possibly due to the small size of the CNS lesions.

Brain↗

PubMed1986

Gastric xanthomatosis and cholestasis. A causal relationship.

We report two cases of gastric xanthomatosis which developed in patients with marked cholestasis. In both cases, one with acute and one with chronic cholestasis, the gastric xanthomas disappeared with resolution of the cholestasis. A review of the literature is also provided.

Adult↗

PubMed1988

Colonic xanthomatosis. Relationship to disordered motility and review of the literature.

We report two additional cases of colonic xanthomatosis associated with persistent rectal symptoms. Disordered colonic motility in the areas of lipid infiltration was documented in one patient. We conclude these lesions may have a pathophysiologic role in the alteration of intestinal motility which appears to be the cause of our patients' symptoms.

Adult↗

PubMed1982

Cerebrotendinous xanthomatosis: a defect in cellular sterol biosynthetic control.

A mentally retarded woman with tendon xanthomata and normal serum cholesterol concentration was found to have raised cholestanol concentrations in the serum and in a xanthoma. This confirmed the diagnosis of cerebrotendinous xanthomatosis (CBX). No specific lipoprotein fraction was found to transport cholestanol. For the first time cultured fibroblasts from a patient with CBX were found to accumulate cholestanol.

Brain Diseases↗

PubMed1986

Fatty acid composition of individual plasma steryl esters in phytosterolemia and xanthomatosis.

The bulk of the plasma plant sterol in phytosterolemia occurs in the esterified form and is carried mostly in the low and high density lipoproteins. We have determined the fatty acid composition of the individual plasma steryl esters from a newly discovered subject with phytosterolemia and xanthomatosis. For this purpose the intact steryl esters were subject to high temperature gas liquid chromatography (GLC) on a polar capillary column, which separated the major esters on the basis of molecular weight and degree of unsaturation of the fatty acids. The saturated and unsaturated sterols esterified to saturated, monoenic, dienoic and tetraenoic fatty acids were identified by GLC analysis of the sterol moieties of the corresponding AgNO3-TLC fractions of the steryl esters. The GLC results were confirmed by reversed phase high performance liquid chromatography combined with mass spectrometry via direct liquid inlet interface. It was found that, in general, each fatty acid was esterified to the same complement of sterols, and that the esterified sterols possessed a composition comparable to that of the free plasma sterols, which was comprised of about 75% cholesterol, 6% campesterol, 4% 22,23-dihydrobrassicasterol and 15% beta-sitosterol. The fatty acid composition of the steryl esters differed from that of the 2-position of the plasma phosphatidylcholines, which contained significantly less palmitic and oleic and more linoleic acid. On the basis of these results and a review of the literature it is suggested that the plasma cholesteryl and plant steryl esters in phytosterolemia originate from both synthesis in plasma via the lecithin-cholesterol acyltransferase and synthesis in tissues via the acylCoA-cholesterol acyltransferase.

Chromatography, Gas↗

PubMed1989

Membranocystic lesion in the brain in cerebrotendinous xanthomatosis. Histochemical and ultrastructural study with evidence of its ceroid nature.

A case is described of cerebrotendinous xanthomatosis with purely neurological manifestations. Cholestanol deposition in both affected and unaffected brain regions was markedly increased, reaching 18.5-20.8% of the sterol fraction. The unilateral lesions localized in the basal ganglia and cerebellar white matter featured perivascular accumulation of foam cells containing apolar lipid and ceroid. Necrosis with lipid-rich debris was a frequent finding often accompanied by prominent collagen deposition. Within these lesions there were numerous refractile thick membranes which, according to lipid histochemical techniques, could be qualified as ceroid-type lipopigment. It is suggested that the ceroid membranes arise extracellularly directly from the lipid-rich debris. Ultrastructurally, they were composed of convolutes of highly organized trilaminar membranes about 15 nm thick similar to those seen in intracellular ceroid granules. The membranes were embedded in an amorphous substance of low or medium density and were identical in their general appearance, stainability and fine structure to the membranocystic lesion in Nasu-Hakola disease and to the extracellular ceroid in atherosclerotic plaques.

Adult↗

PubMed2000

Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis.

A case of sudden death of a 52-year-old mentally retarded Caucasian male is described where the rectal temperature was 43.4 degrees C 3 h postmortem. The autopsy revealed cerebrotendinous xanthomatosis (CTX), a rare hereditary metabolic disorder, as the primary disease. The diagnosis was confirmed by postmortem identification of two mutations (compound heterozygosity for R237X and IVS6+1G-->A) in the sterol 27-hydroxylase (CYP27) gene. Both mutations have already been described in patients with CTX and can be considered the most likely cause of the disease. The pathomechanism of the excessive hyperthermia could not be completely elucidated.

Base Sequence↗

PubMed1995

[Successful treatment of eruptive xanthomatosis with the antilipemic agents acipimox].

A 51-year-old male patient with histologically confirmed eruptive xanthomatosis is presented. Routine and special laboratory examinations showed complex disturbances of carbohydrate and lipid metabolism, the latter taking the form of classic hyperlipoproteinaemia type IV. Combined oral antilipaemic drugs including acipimox (methylpyrazine carboxylic acid analogue of nicotinic acid) and a low-fat diet resulted in regression of the skin symptoms and normalization of the serum lipid levels.

Combined Modality Therapy↗

PubMed2002

[Cerebrotendinous xanthomatosis, a treatable metabolic disorder].

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis which can be clinically diagnosed and specifically treated. It is an underdiagnosed disorder worldwide.Here,we describe two women who were diagnosed with CTX during their forties after symptoms had already developed 15 years earlier. Both patients showed gait ataxia, spastic paraparesis, polyneuropathy, bilateral premature cataracts, tendon xanthomas, and cognitive deficits. One of the patients had also chronic diarrhea. The deficiency of the mitochondrial enzyme sterol 27-hydroxylase results in a virtual absence of chenodeoxycholic acid. This leads to excessive production of cholestanol and cholesterol and accumulation of these sterols in many tissues, especially the eye lens, central nervous system,and tendons. The determination of a high cholestanol serum level allows the diagnosis,which can be confirmed through genetic analysis. Early diagnosis of CTX is important, since an effective therapy is available. Long-term therapy with chenodeoxycholic acid is effective for CTX, mainly in prevention of further deterioration.

Adult↗

PubMed2006

Cerebrotendinous xanthomatosis presenting with bilateral Achilles tendon xanthomata.

We report on a case of a 36-year-old lady who presented with large, painful soft-tissue swellings of both Achilles tendons. MRI demonstrated fusiform enlargement involving the Achilles tendons bilaterally. The tendons returned heterogeneous signal intensity characterised by a diffuse reticulated appearance. The right tendon mass was treated with a wide marginal excision and Achilles tendon reconstruction. The histology confirmed Achilles tendon xanthoma. Further metabolic investigation revealed the patient to have a rare autosomal recessive condition called cerebrotendinous xanthomatosis (CTX). Her brother was also affected. CTX is easily treatable if diagnosed early, and should be suspected in patients presenting with bilateral Achilles tendon xanthomas and normal plasma lipid levels.

Achilles Tendon↗