Fibrohistiocytic Tumors

Beuckeleer, L. H. L. De; Vanhoenacker, Filip

doi:10.1007/3-540-30792-3_14

Cited by 3 publications

(2 citation statements)

References 86 publications

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“…The MRI may reveal a reticular/speckled appearance due to interspersed areas of slightly high signal intensity, which are presumably due to secondary edema/inflammation. [ 9 ] Certain authors believe that high-resolution USG is as sensitive as MRI in depicting the number and extent of intratendinous lesions. CT scan and USG have been used to monitor the response to treatment as both are equally good in assessing the anteroposterior diameter of the tendons, the reduction of which is a parameter for measuring the success of treatment.…”

Section: Discussionmentioning

confidence: 99%

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Case Report: Cerebrotendinous xanthomatosis

Karandikar

Pushparajan

Unni

et al. 2009

Indian Journal of Radiology and Imaging

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Section: Discussionmentioning

confidence: 99%

“…CT scan and USG have been used to monitor the response to treatment as both are equally good in assessing the anteroposterior diameter of the tendons, the reduction of which is a parameter for measuring the success of treatment. [ 9 ] However we prefer USG for the same due to lack of radiation and equal efficiency.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Cerebrotendinous xanthomatosis

Karandikar

Pushparajan

Unni

et al. 2009

Indian Journal of Radiology and Imaging

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Tumor and Tumor-Like Lesions of Soft Tissue

et al. 2013

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Multi-imaging study in a patient with cerebrotendinous xanthomatosis: radiology, clinic and pathology correlation of a rare condition

et al. 2020

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Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disease with autosomal recessive inheritance. It is caused by mutations of the CYP27A1 gene, which codifies for sterol 27-hydroxylase, an enzyme that is responsible for the synthesis of cholic acids. In CTX, cholic acid synthesis is impaired, leading to accumulation of the precursor chenodessossicholic acid) in various organs and tissues. The clinical manifestations of CTX include chronic diarrhea, early-onset cataracts, tendon xanthomas and neurological disturbances. Therapy with oral chenodessossicholic acid has been shown to provide significantly better outcomes for affected individuals; therefore, recognition of this disease and awareness of its suggestive instrumental signs is extremely important. In this study, we describe the imaging findings in a 43-years-old male who was diagnosed with CTX and studied through ultrasound, CT and MRI. It is important that the neurology and radiology communities are aware of this multi-imaging findings: recognition of them is important, as due to the high variability of the manifestation of this disease; it could impact on early diagnosis of a condition rarely seen, but manageable.

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Fibrohistiocytic Tumors

Cited by 3 publications

References 86 publications

Case Report: Cerebrotendinous xanthomatosis

Case Report: Cerebrotendinous xanthomatosis

Tumor and Tumor-Like Lesions of Soft Tissue

Multi-imaging study in a patient with cerebrotendinous xanthomatosis: radiology, clinic and pathology correlation of a rare condition

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