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Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review.

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UNASSIGNED Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by mutations of the CYP27A1 gene and deficiency of the sterol-27-hydroxylase enzyme in bile acid biosynthesis. It is characterized by the accumulation of cholestanol and bile alcohols in

Cerebrotendinous xanthomatosis: case report with evidence of oxidative stress.

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Cerebrotendinous xanthomatosis is an autosomal recessive disorder of bile acid synthesis, characterized by mutation in the mitochondrial enzyme 27-hydroxylase that leads to an accumulation of cholestanol and cholesterol. Characterized clinically by premature bilateral cataracts, slowly progressive

Pathophysiology of cerebrotendinous xanthomatosis.

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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene, which lead to deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in the accumulation of cholestanol in the serum and many affected lesions. To date,

Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis.

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We describe our encounter with a 39-year-old man who exhibited acute painless visual loss and progressive gait disturbance. He had tendinous xanthoma and several neuroophthalmological findings indicative of optic neuropathy in the right eye, including afferent pupillary defect, cecocentral scotoma,

[Cerebrotendinous xanthomatosis, a treatable metabolic disorder].

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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

Sedimentary records of sewage pollution using faecal markers in contrasting peri-urban shallow lakes.

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Sewage contamination in shallow lake sediments is of concern because the pathogens, organic matter and nutrients contribute to the deterioration of the water-bodies' health and ecology. Sediment cores from three shallow lakes (Coneries, Church and Clifton Ponds) within Attenborough nature reserve

[Cerebrotendinous xanthomatosis--a case of brain MRI abnormality and osteoporosis].

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A 37-year-old male with cerebrotendinous xanthomatosis showed brain abnormal MRI findings and osteoporosis. His parents had no similar symptoms. He had mental retardation since childhood. Swelling of Achilles tendons was noticed at age 28, and gait disturbance appeared at age 34. Physical

[Effect of LDL-apheresis on a case of Cerebrotendinous Xanthomatosis].

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Cerebrotendinous Xanthomatosis (CTX) is a rare familial disease characterized by tendon-xanthomas, cataracts, progressive cerebellar ataxia, dementia and an elevation of serum cholestanol with normal levels of cholesterol. Although the pathogenesis of CTX is not fully understood, increment of

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

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OBJECTIVE 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

Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.

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Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn error of bile acid metabolism characterized by diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas developing in the second to third decades of life, and progressive neurologic dysfunction in adulthood.

[Cerebrotendinous xanthomatosis. 2 cases with magnetic resonance imaging].

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A 40-year-old woman presented with bilateral juvenile cataract, tendinous xanthomas, intellectual deterioration, spastic tetraparesis, proprioceptive deficit and parkinsonian syndrome. A younger sister's clinical picture differed by the absence of xanthomas and the presence of a cerebellar syndrome.

Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing.

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The authors report the clinical findings in 10 Italian cases of cerebrotendinous xanthomatosis (CTX). In addition to the classical neurological manifestations, the presence of psychiatric symptoms and osteopenia is stressed. Chronic treatment with chenodeoxycholic acid resulted in decreased plasma

[Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder].

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Cerebrotendinous xanthomatosis (CTX) is a rare and treatable autosomal recessive disease. The diagnosis should be suspected in the presence of a suggestive clinical triad characterized by early-onset cataract, tendinous xanthomata and neurological symptoms and signs, notably cerebellar ataxia,

Treatment and follow-up of children with cerebrotendinous xanthomatosis.

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The clinical spectrum and the effects of treatment over a period of 5 years in five children with cerebrotendinous xanthomatosis (CTX) are described. In all children biochemical, neuroradiological, and neurophysiological studies were done. CTX was diagnosed and effects of therapy were evaluated by

[A case of familial type IIa hypercholesterolemia with the clinical features similar to cerebrotendinous xanthomatosis].

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A 63-years-old woman noticed unsteady gait at the age of 56 years and then developed dysarthria two years later. A general physical examination at age 56 revealed mild hypertrophy of both Achilles tendons. On neurological examination, she had scanning speech, moderate limb and truncal ataxia, and

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