Lenticular changes in cerebrotendinous xanthomatosis, a treatable metabolic disorder that is important to recognize

2013 ◽  
Vol 17 (1) ◽  
pp. e18
Author(s):  
Arif O. Khan ◽  
Mohammed A. Aldahmesh ◽  
Arif Jawaher ◽  
Y. Mohamed Fowzan ◽  
S. Alkuraya Khan
Keyword(s):  
Metabolic Disorder ◽  
Cerebrotendinous Xanthomatosis

Endoscopic resection of tendon xanthoma in the elbow of a patient with cerebrotendinous xanthomatosis

2021 ◽  
Vol 14 (11) ◽  
pp. e244931
Author(s):  
Katsumasa Nakazawa ◽  
Koichi Yano ◽  
Yasunori Kaneshiro ◽  
Hideki Sakanaka
Keyword(s):  
Treatment Outcomes ◽  
Endoscopic Resection ◽  
Metabolic Disorder ◽  
Cerebrotendinous Xanthomatosis ◽  
Open Resection ◽  
Less Invasive ◽  
Invasive Method ◽  
The Right ◽  
Tendon Xanthoma

We describe the case of a 44-year-old woman with cerebrotendinous xanthomatosis (CTX) who had a tendon xanthoma on the right olecranon. The patient successfully underwent endoscopic resection. There were no signs of recurrence on MRI 2 years postoperatively. There were no complications related to the surgery, and the patient is completely satisfied with the treatment outcomes. CTX, a genetic metabolic disorder, is associated with the development of tendon xanthomas. Endoscopic resection of tendon xanthoma in the elbow of patients with CTX is a less invasive method than open resection.

An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes

Pathology ◽  
2003 ◽  
Vol 35 (2) ◽  
pp. 141-144 ◽  
Author(s):  
Hiroya Kato ◽  
Sukenari Koyabu ◽  
Shigenori Aoki ◽  
Takuya Tamai ◽  
Masahiro Sugawa ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gallbladder Cancer ◽  
Cerebrotendinous Xanthomatosis ◽  
Autopsy Case ◽  
P53 Genes
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