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1.
Vanrietvelde F Lemmerling M Mespreuve M Crevits L De Reuck J Kunnen M 《European radiology》2000,10(4):576-578
The clinical, biochemical and magnetic resonance imaging findings of two patients with cerebrotendinous xanthomatosis are
reported. This is a rare hereditary disease. Early recognition of this entity is important in view of the existing treatment
possibilities. Magnetic resonance imaging findings typically include a bilateral and almost symmetrical increase of the signal
intensity on the T2-weighted images in the cerebellar and periventricular cerebral white matter, the basal ganglia, the dentate
nuclei and the brainstem as well as cerebellar and cerebral atrophy.
Received: 18 January 1999; Revised: 3 June 1999; Accepted: 7 June 1999 相似文献
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Chi Ma Yan-De Ren Jia-Chen Wang Cheng-Jian Wang Ji-Ping Zhao Tong Zhou Hua-Wei Su 《Medicine》2021,100(9)
Rationale:Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid deposition disorder characterized by systemic signs and neurological dysfunction. The radiological features of CTX are infrequently summarized in the literature.Patient concerns:We described a 40-year-old male patient who repeatedly engaged in wrestling matches and presented with progressive difficulty in walking and reduced balance with egg-sized, hard, smooth, and painless masses in both ankles.Diagnosis:Neuroimaging examination showed abnormalities both supra- and infratentorially. Bilateral ankle joint magnetic resonance imaging showed bilateral xanthomata of the Achilles tendon. The diagnosis was confirmed by the detection of a sterol 27-hydroxylase gene mutation.Interventions:The patient was treated with chenodeoxycholic acid (250 mg 3 times per day).Outcomes:To date, the patient''s bilateral xanthomas of the Achilles tendon have begun to diminish, and his neurological impairment has not deteriorated further but has not yet improved.Lessons:We report a rare case of CTX and summarize the clinical and imaging features of this disease. Our findings suggest that the abnormal signals in the dentate nucleus or a long spinal cord lesion involving the central and posterior cord, combined with tendon xanthoma, are important clues for the diagnosis of CTX. 相似文献
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《Nutrition reviews》1976,34(6):172-174
Three cases of a rare disease associated with excessive absorption of plant sterols have been identified. Although the plant sterols constitute a small proportion of the total circulating plasma sterols, xanthomatosis is the major problem. Otherwise circulating lipid levels may be normal. 相似文献
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P. H. M. Pop E. Joosten A. van Spreeken A. Gabreëls-Festen H. Jaspar H. ter Laak A. Vos 《Acta neuropathologica》1984,64(3):259-264
Summary We studied three siblings and one unrelated patient with cerebrotendinous xanthomatosis (CTX). Of two unrelated patients, we examined biopsies of sural nerve, soleus muscle, and achilles tendon. We also performed neurophysiologic investigations. Another patient died, and a postmortem examination of both brain and spinal cord was made. It was concluded that both the central and the peripheral nervous system were involved in CTX, but the peripheral system only to a slight degree, and that the pathology was predominantly neuroaxonal rather than demyelinating in character. 相似文献
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Huijgen R Stork AD Defesche JC Peter J Alonso R Cuevas A Kastelein JJ Duran M Stroes ES 《Clinical genetics》2012,81(1):24-28
Two unrelated individuals were referred to Lipid Clinics in The Netherlands and Chile with extreme xanthomatosis and hypercholesterolemia. Both were diagnosed with heterozygous familial hypercholesterolemia (heFH) after molecular genetic analysis of the low-density lipoprotein (LDL) receptor gene. Since heFH by itself could not account for the massive xanthomas, the presence of an additional hereditary lipid or lipoprotein disorder was suspected. Further genetic analysis revealed homozygozity for mutations in the sterol 27-hydroxylase gene, confirming the diagnosis of cerebrotendinous xanthomatosis (CTX). Markedly, the typical neurological manifestations of CTX were absent, suggestive of a protective role of LDL-receptor deficiency against the severe neurological consequences of CTX. 相似文献