1/8. Cerebrotendinous xanthomatosis.Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis. Predominant clinical features are a chronic progressive neurological syndrome, mental deterioration, bilateral cataract and xanthomas. The presence of xanthomas usually leads to the diagnosis, and the reverse is probably also true: without xanthomas the diagnosis will often not be made. CTX may therefore be less rare than commonly thought, and the incidence of xanthomas in CTX may be overestimated. Four cases without xanthomas among the presenting symptoms are described, and the relevance of xanthomas in CTX is discussed.- - - - - - - - - - ranking = 1keywords = xanthomatosis (Clic here for more details about this article) |
2/8. Parkinsonism in cerebrotendinous xanthomatosis.This report describes a case of cerebrotendinous xanthomatosis (CTX) accompanied by clinical manifestations of parkinsonism, including oily and masked face, marked akinesia, muscle rigidity and resting hand tremor. magnetic resonance imaging (MRI) of the brain showed high intensity areas on T2 weighted imaging, and slightly low intensity areas on T1 weighted imaging in the right globus pallidus and the left putamen. Cerebral cortical atrophy with slight ventricular dilatation and cerebellar atrophy were present as well. This is a case report of CTX which manifested parkinsonism. Parkinsonism may not be a coincidental manifestation in CTX, but rather represent a symptom of the same underlying diathesis.- - - - - - - - - - ranking = 7.0591932879035keywords = cerebrotendinous, xanthomatosis (Clic here for more details about this article) |
3/8. magnetic resonance imaging of the brain and spinal cord in cerebrotendinous xanthomatosis.This reports a 40 year old man with cerebrotendinous xanthomatosis who had bilateral cataracts, enlarged Achilles tendons, progressive dementia, gait disturbance and peripheral neuropathy. electroencephalography, electromyography, and magnetic resonance imaging (MRI) of the brain and spine were performed. magnetic resonance imaging revealed cerebral, cerebellar and cervical cord atrophy and white matter involvement in the cerebrum and cerebellum correlating well with the clinical findings. To date there has been one previous report of MRI of the brain in cerebrotendinous xanthomatosis and none of the spinal cord.- - - - - - - - - - ranking = 8.4710319454842keywords = cerebrotendinous, xanthomatosis (Clic here for more details about this article) |
4/8. Cerebrotendinous xanthomatosis: clinical and MRI study (a case report).We report a patient with cerebrotendinous xanthomatosis (CTX) presenting with dementia, spastic tetraparesis and an unreported akinetic-rigid syndrome. Computed tomography (CT) showed only cerebellar abnormalities while magnetic resonance imaging (MRI) detected additional pallidal and mesencephalic focal alterations. MRI findings, but not CT, correlated with the clinical picture.- - - - - - - - - - ranking = 2.2118386575807keywords = cerebrotendinous, xanthomatosis (Clic here for more details about this article) |
5/8. 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.- - - - - - - - - - ranking = 7.0591932879035keywords = cerebrotendinous, xanthomatosis (Clic here for more details about this article) |
6/8. Case of cerebrotendinous xanthomatosis. I: Unusual ophthalmic features.A case of cerebrotendinous xanthomatosis is reported. In addition to the classical ophthalmic and systemic features the patient presented with unilateral proptosis. This feature has never previously been reported. The results of investigations are described and illustrated.- - - - - - - - - - ranking = 7.0591932879035keywords = cerebrotendinous, xanthomatosis (Clic here for more details about this article) |
7/8. 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.- - - - - - - - - - ranking = 7.0591932879035keywords = cerebrotendinous, xanthomatosis (Clic here for more details about this article) |
8/8. Low-density lipoprotein metabolism in cerebrotendinous xanthomatosis.Cerebrotendinous xanthomatosis (CTX) is a rare disorder characterized by a defect in conversion of cholesterol into bile acids, increased plasma levels of cholestanol, and accumulations of sterols in tendons, brain, and coronary arteries. Despite the presence of tendon xanthomas, patients with CTX frequently have low levels of plasma cholesterol and low density lipoproteins (LDL). The mechanisms for a low LDL are not understood. The present study, therefore, was carried out to examine the metabolism of LDL in a 58-year-old black man with CTX. This particular patient had an LDL-cholesterol in the mid-normal range (149 /- 6 mg/dL). Nonetheless, his fractional catabolic rate (FCR) for LDL-apolipoprotein (apo-LDL) was 0.45 pools/d, which was increased compared to 15 aged-matched men (FCR, 0.30 /- 0.01 pools/d). His production rate for apo-LDL (18.5 mg/kg-d) also was increased compared to those of middle-aged men (13.5 /- 2.5 mg/kg-d). Since the underlying defect in CTX can be reversed by administration of chenodeoxycholic acid (chenodiol), the patient was treated with chenodiol (250 mg 4X daily), and measurements of LDL kinetics were repeated. During chenodiol therapy, his LDL-cholesterol concentration rose significantly to 165 /- 12 mg/dL; his FCR for apo-LDL fell to 0.29 pools/d; and his production rate of apo-LDL declined to 14.4 mg/kg-d. We postulate that chenodiol suppressed the excessive synthesis of cholesterol and bile acids, which had two effects. It curtailed both the overproduction of LDL and the excessive synthesis of LDL receptors, the latter being responsible for the high FCR of apo-LDL in the untreated state.- - - - - - - - - - ranking = 5.8473546303228keywords = cerebrotendinous, xanthomatosis (Clic here for more details about this article) |