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A bilateral Achilles masses male patient with mental retardation in Macao ------ A case report of rare Cerebrotendinous xanthomatosis and literature review

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DOI: 10.23977/medinm.2020.010101 | Downloads: 23 | Views: 3422


Ieong Chon Man 1, Kong Soi Chau 1


1 Department of Radiology, Centro Hospitalar Conde de S. Januário, 999078, Macao SAR, China.

Corresponding Author

Kong Soi Chau


Introduction: Cerebrotendinous xanthomatosis is a rare disease that is related to autosomal recessive inheritance of cholesterol metabolism. Early diagnosis is essential to the treatment and change the course of the disease. Case Report: This study reports a case of a 57-year-old man with painful Achilles tendon mass and no typical gout who was diagnosed in our hospital. He had history of mental retardation since childhood. He also presented with chronic diarrhea for many years. He was performed the aboratory examination revealed dyslipidemia. MRI of lower extremities showed two lobulated masses in the bilateral Achilles tendon regions, isointensity on T1WI, iso-hyperintensity on T2WI and heterogeneous enhancement, suggesting that the disease was xanthoma. Then biopsy of the tumors were performed and pathology confirmed the diagnosis of xanthoma. Brain CT showed cerebral atrophy and bilateral focal cerebellar lesions. Clinical symptoms, hyperlipidemia and imaging examination of this patient suggested diagnosis of cerebrotendinous xanthomatosis and the genetic mutation test (CYP27A1) confirmed the diagnosis of cerebrotendinous xanthomatosis. Conclusion: Cerebrotendinous xanthomatosis is a rare disease. The radiologist should pay attention to this disease and recommended neuroimaging to obtain a final diagnosis.Genetic test was suggested to confirm the diagnosis.


Bilateral Xanthoma; Tendoachilles; Dyslipidmia; Cerebrotendinous xanthomatosis


Ieong Chon Man, Kong Soi Chau. A bilateral Achilles masses male patient with mental retardation in Macao ------ A case report of rare Cerebrotendinous xanthomatosis and literature review. Medical Imaging and Nuclear Medicine (2020) Vol. 1: 1-7. DOI:


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