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PubMed1983

[Coronary insufficiency in hypercholesterolemic xanthomatosis. Angiographic aspects].

Coronary arteriography for severe coronary artery disease was carried out in 21 patients with hypercholesterolaemic xanthomatosis (group I) and in 42 patients with serum lipids (group II). Both groups were matched with regard to age, sex and cardiovascular risk factors (hypertension, smoking habits, diabetes). The films were examined by an observer unaware of the patients' clinical features; the severity of the lesions observed was assessed by means of a coronary score system. Group I patients had significantly more severe coronary artery lesions and a significantly higher incidence (52% versus 7%; p less than 0.001) of left main coronary artery stenosis carrying a high risk of sudden death. The percentages of affected vessels amenable to surgery and abnormalities in left ventricular function were similar in both groups. It therefore seems reasonable to envisage early coronary angiography followed, if necessary, by aorto-coronary bypass in patients with hypercholesterolaemic xanthomatosis who experience anginal attacks, show ECG abnormalities on exercise and have persistent pain after myocardial infarction.

Adult↗

PubMedDate not supplied

[Montgomery xanthomatosis (author's transl)].

A typical case of Montgomery xanthomatosis is reported by the authors. Out of this case and of a hundred other ones gathered from the literature, they outline the main features of the disease. It is revealed as being stereotyped and particularly the prognosis is usually good. Whether the ultra structural study may show Langerhans corpuscules or not, it brings us a material to the discussing of border-line cases (xanthomatosis with diabetes insipidus, Hand-Schüller-Christian disease with cutaneous lesions similar to Montgomery's.

Adolescent↗

PubMed1982

[Cerebrotendinous xanthomatosis: long-term treatment with chenodesoxycholic acid (author's transl)].

A case of cerebrotendinous xanthomatosis without hyperlipidaemia but with tendinous scanthomatosis, subtle neurological disorders and endocrine cataract is reported. Accumulation of cholestanol, a cholesterol derivative, was detected by mass fragmentography. The plasma cholestanol : cholesterol ratio was 30 times higher than normally. Treatment with chenodesoxycholic acid during 26 months brought about neurological improvement, stabilization of the cataract and xanthomatosis and return to normal of plasma cholestanol levels.

Adult↗

PubMed1994

Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings.

PURPOSE: To describe the CT and MR findings in the brain and spinal cord of patients with cerebrotendinous xanthomatosis and to seek possible correlations between clinical, biochemical (cholestanol levels), and neuroimaging findings. METHODS: Ten patients with well-defined clinical and biochemical diagnoses of cerebrotendinous xanthomatosis were examined. Brain CT was performed in eight cases. In all patients MR was obtained using spin-echo and gradient-echo sequences. In eight patients spine MR was also performed. RESULTS: Neuroradiologic findings included diffuse cerebral and cerebellar atrophy. In half the cases, atrophy of the brain stem and corpus callosum was also found. In the majority of patients cerebellar bilateral focal lesions and mild white matter signal alterations were present. Spinal cord MR did not show signal abnormalities or atrophy. CONCLUSIONS: We found cranial alterations in patients with severe neurologic impairment, but there was no correlation with cholestanol plasma levels. No spinal cord abnormalities were present.

Adult↗

PubMed1994

Treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid in three siblings.

We investigated the therapeutic effect of chenodeoxycholic acid (750 mg/day) in three siblings with cerebrotendinous xanthomatosis. All three siblings had characteristic clinical manifestations, abnormal findings of magnetic resonance imaging and electroencephalogram, and high serum levels of cholestanol, cholesterol precursor (lathosterol), and plant sterols (campesterol, sitosterol). After treatment for one year, the serum levels of these sterols were decreased and some neurologic improvements in the pyramidal tract signs and cerebellar signs were noted. The electroencephalographic findings were markedly changed and normalized. However, mental defects and sensorimotor polyneuropathy still remained. No changes of neuroradiologic features could be detected. A longer period of treatment is required to estimate the overall effects of chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis.

Adult↗

PubMed2000

Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis.

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder of bile acid synthesis. A diagnosis of CTX should be considered in patients with premature bilateral cataracts, intractable diarrhea, neurological signs and symptoms, and tendon xanthomas, especially in the Achilles tendons. The prevalence of these signs and symptoms increases with age. OBJECTIVES: To investigate signs and symptoms, age at onset, and age at diagnosis in 32 patients with biochemically and genetically confirmed CTX, and to compare this clinical spectrum with reports in the literature. METHODS: Retrospective analysis of records of all patients with CTX at our hospital (27 adults and 5 children). After a MEDLINE search in the English, French, and German literature, 181 patients with CTX (165 adults and 16 children) were identified worldwide. RESULTS: Of our 32 patients with CTX, 31 (97%) had cataracts and neurological signs and symptoms, predominantly pyramidal signs (26 [81%]); 21 (66%) had low intelligence and 18 (56%) had cerebellar signs. Only 13 (41%) had visible or palpable tendon xanthomas at the time of diagnosis. In total, 16 patients (50%) had chronic, intractable diarrhea that started in childhood. These findings were in contrast with the literature, where tendon xanthomas were reported in 89% and diarrhea in only 2 patients. CONCLUSIONS: We believe that CTX is underdiagnosed worldwide. We recommend that the presence of 2 of the 4 clinical hallmarks of CTX prompt thorough metabolic screening, including determination of urine bile alcohol excretion and serum cholestanol level, because CTX is a treatable disease.

Adolescent↗

PubMed2002

Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sisters.

Cerebrotendinous xanthomatosis (CTX) is a hereditary disorder, which is inherited as an autosomally recessive disease, causing production of cholesterol and cholestanol xanthomas and mental retardation. The disease is caused by mutations in the gene for sterol 27-hydroxylase (CYP27A1). The only CTX patients diagnosed in Scandinavia are two Norwegian sisters from a consanguineous marriage. Here we have characterized the mutation and its functional consequences for the enzyme. Analysis of genomic DNA from cultured fibroblasts identified a base exchange C > T in position 1441, causing arginine at amino acid position 441 to be replaced by tryptophan. The same mutation was introduced by mutagenesis in the complimentary DNA (cDNA) for CYP27, ligated into the expression vector pcDNA4/HisMax and transfected into HEK293 cells. The mutated enzyme had less than 5% of the enzyme activity compared with the native enzyme. No abnormal catalytic products could be identified in the cell culture medium. Probably the mutation affects the haem binding within the holoenzyme. The mutation has also previously been reported in a Japanese family. This is the second example of a CTX-causing mutation that has been recognized in more than one population.

Adult↗

PubMed1964

MYELOMATOSIS WITH XANTHOMATOSIS MULTIFORME.

A 45-year-old man developed, apparently simultaneously, two rare conditions, xanthomatosis (with hypercholesterolemia) and myelomatosis. His blood contained very high levels of cholesterol, the major part of which was present in a markedly elevated beta-lipoprotein fraction. Studies carried out over a period of six years, utilizing electrophoresis, ultracentrifugation, determinations of chemical composition and incorporation with C(14)-labelled glutamic acid and acetate, indicated a direct association between the two conditions, the myeloma lipoprotein apparently being produced by the abnormal plasma cells in the bone marrow. There were definite indications that the low density S(f) 0-12 lipoproteins were primarily involved.

Blood Chemical Analysis↗

PubMed1986

Capillary gas chromatography of urine samples in diagnosing cerebrotendinous xanthomatosis.

A patient is described with many clinical features of cerebrotendinous xanthomatosis (CTX), but with only slightly elevated cholestanol/cholesterol concentration ratios in serum and xanthomatous tissue. However, with capillary gas chromatographic determinations of urinary bile acids and bile alcohols we demonstrated the typical biochemical abnormalities as seen in CTX patients. This article emphasizes the value of urinary capillary gas chromatography as a specific test to establish the diagnosis of CTX and to monitor the biochemical effectivity of the different treatment regimens.

Aged↗

PubMed1985

Peripheral neuropathy in cerebrotendinous xanthomatosis.

We performed a sural nerve biopsy in a patient with cerebrotendinous xanthomatosis (CTX) because of electrophysiologic evidence of peripheral neuropathy. The sections showed a striking loss of myelinated axons, the distribution of which suggested a compressive and/or ischemic process. Biochemical analysis disclosed large amounts of cholestanol, a cholesterol derivative that characteristically accumulates in CTX. However, the biochemical abnormality was not associated with any obvious structural alterations in the myelin lamellae or with abnormal storage material in Schwann's cells.

Achilles Tendon↗

PubMed1992

Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid.

Evoked potentials are reported in 10 patients with cerebrotendinous xanthomatosis, eight of whom had peripheral neuropathy. Four subjects showed delayed N13 to N20 interpeak latencies for arm somatosensory evoked potentials, and five showed moderately prolonged I to III and I to V interpeak latencies of brain-stem auditory evoked potentials. Six of seven patients showed marked delay and desynchronization of visual evoked potentials. All five patients undergoing transcutaneous magnetic stimulation of the motor cortex presented greatly delayed central motor conduction time, especially of the lower limbs. After treatment with chenodiol (750 mg/d for at least 2 years), there was a significant improvement in nerve conduction velocities, N13 to N20 interpeak latencies, and visual evoked potential latencies. Brain-stem auditory evoked potentials remained unchanged.

Adult↗

PubMed2005

Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized.

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare but treatable neurodegenerative disorder caused by 27-sterol hydroxylase (CYP27) deficiency. OBJECTIVE: To describe clinical features and results of genetic analysis in a family with CTX. DESIGN: Case report. SETTING: University hospital. Subjects A 54-year-old woman with CTX, her family members, and 115 white control subjects. MAIN OUTCOME MEASURES: Results of clinical evaluation and magnetic resonance imaging of the brain in the affected subject; results of mutation analysis of the CYP27 coding sequence in the patient, her parents, and the control subjects. RESULTS: The proband and her affected sibling had classic features of CTX, including presenile cataracts, tendon xanthomas, diarrhea, and a complex neurodegenerative disorder. They were somewhat atypical, however, because their cataracts were congenital, cognitive impairment had been noted in childhood, and the white matter involvement was more severe than usual. The proband was shown to be homozygous for CYP27 mutation R362C. Similar analysis of 115 control subjects identified 1 subject who was a heterozygous carrier for this same CYP27 mutation. CONCLUSIONS: The prevalence of CTX due to CYP27 mutation R362C alone is approximately 1 per 50,000 among white individuals. Although the disorder is rare, this incidence is substantially greater than previously recognized. Greater awareness of CTX is important because specific treatment is available.

Arginine↗

PubMed1976

Cerebrotendinous xanthomatosis.

A case of presumed cerebrotendinous xanthomatosis is described. The association of cataracts with central nervous system signs and tendon xanthoma is noted. Deposition of cholestanol appears to be the primary lesion in this disease.

Adult↗

PubMed1981

Genetics of cerebrotendinous xanthomatosis (CTX): an autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin.

We described 6 patients (from 3 families) affected with cerebrotendinous xanthomatosis (CTX). All are Sephardic Jews of Moroccan extraction. In view of the small number of CTX patients diagnosed in the world (a total of 50 including our 6 patients), we are probably dealing with an ethnic subgroup with a high CTX gene frequency, which we have estimated to be 1/108. Since there are differences in expression in this disease, we recommend cholestanol study in cases of undiagnosed cataract or tendinous xanthomas in childhood or early adolescence. The diagnosis in CTX is important not only for genetic counseling, but also in veiw of possible treatment.

Adolescent↗

PubMed1988

Pregnancy in women with cerebrotendinous xanthomatosis (CTX): high risk condition for fetus and newborn infant?

Cerebrotendinous xanthomatosis (CTX), is one of the few autosomal recessive progressive storage diseases allowing affected individuals to reproduce. We investigated 38 CTX patients and most of their families. The possibility of a high risk situation for the fetus and/or the apparently healthy newborn infant born to CTX mothers and female carriers of the gene is discussed for genetic counseling purposes and in view of available treatment.

Abortion, Spontaneous↗

PubMed2005

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP27). We report a 53-year-old man, with an unusual phenotype of CTX. He had xanthomas since adolescence. He had no mental retardation and developed at 44 years a progressive neuropsychiatric phenotype, suggestive of fronto-temporal dementia according to clinical Neary criteria. Cataract and ataxia were absent. Cerebral MRI revealed diffuse hyperintense T2 abnormalities in the supratentorial white matter without cerebellar atrophy or lesions, while Technetium-99m-ECD brain SPECT revealed a severe cerebellar hypoperfusion. Serum cholestanol level was elevated with excessive urinary bile alcohols excretion. Mutation analysis revealed that he was compound heterozygous for two mutations in the CYP27A1 gene: 1016 C > T (exon 5) on one allele and a novel mutation, 1435C > G (exon 8) on the other allele. A follow-up study was conducted to evaluate the effects of chenodeoxycholic acid (CDCA) and simvastatin treatment during 3 years. In spite of this treatment, cognitive functions declined but no other signs of neurological deterioration appeared.

Dementia↗

PubMed1985

Treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid.

We describe a patient with cerebrotendinous xanthomatosis who was treated for one year with chenodeoxycholic acid. Modest clinical improvement was accompanied by marked improvement in visual and brainstem auditory evoked potentials. Improved central nervous system function coincided with return of plasma and cerebrospinal fluid cholestanol levels to normal.

Adult↗

PubMed1990

Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia.

A 48-year-old woman with a 30-year history of tendinous xanthomatosis developed paraplegia. The magnetic resonance image revealed extramedullary tumors. The analysis of her sera and tumors revealed increased amount of plant sterols, especially sitosterol, and the diagnosis of sitosterolemia was made. This is the first reported case of a patient with sitosterolemia who had the neurological complication of spinal cord compression due to extramedullary sitosterolemic xanthomas.

Cholesterol↗