Cerebrotendinous xanthomatosis in a 10-year-old male presenting with Achilles tendon xanthoma and mild intellectual disability: A case report |
Yoon, Ji Hye
(Department of Pediatrics, Seoul National University Children's Hospital)
Kim, Ka Young (Department of Pediatrics, Seoul National University Children's Hospital) Lee, Sang-Yun (Department of Pediatrics, Seoul National University Children's Hospital) Kim, Soo Yeon (Department of Genomic Medicine, Seoul National University Hospital) Lee, Young Ah (Department of Pediatrics, Seoul National University Children's Hospital) Ki, Chang-Seok (GC Genome) Song, Junghan (Department of Laboratory Medicine, Seoul National University Bundang Hospital) Shin, Choong Ho (Department of Pediatrics, Seoul National University Children's Hospital) Lee, Yun Jeong (Department of Pediatrics, Seoul National University Children's Hospital) |
1 | Salen G, Steiner RD. Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). J Inherit Metab Dis 2017;40:771-81. DOI |
2 | Lee JH, Lee K, Jun SH, Song SH, Shin CH, Song J. A multiplex phytosterol assay utilizing gas chromatography-mass spectrometry for diagnosis of inherited lipid storage disorders. Ann Lab Med 2019;39:411-3. DOI |
3 | Lee JH, Song DY, Jun SH, Song SH, Shin CH, Ki CS, et al. High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence. PLoS One 2020;15:e0238079. DOI |
4 | Koyama S, Sekijima Y, Ogura M, Hori M, Matsuki K, Miida T, et al. Cerebrotendinous xanthomatosis: molecular pathogenesis, clinical spectrum, diagnosis, and disease-modifying treatments. J Atheroscler Thromb 2021;28:905-25. DOI |
5 | Yoo EG. Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. Ann Pediatr Endocrinol Metab 2016;21:7-14. DOI |
6 | Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 1984;311:1649-52. DOI |
7 | von Bahr S, Movin T, Papadogiannakis N, Pikuleva I, Ronnow P, Diczfalusy U, et al. Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1). Arterioscler Thromb Vasc Biol 2002;22:1129-35. DOI |
8 | Russell DW. The enzymes, regulation, and genetics of bile acid synthesis. Annu Rev Biochem 2003;72:137-74. DOI |
9 | Gallus GN, Dotti MT, Federico A. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci 2006;27:143-9. DOI |
10 | Tsouli SG, Kiortsis DN, Argyropoulou MI, Mikhailidis DP, Elisaf MS. Pathogenesis, detection and treatment of Achilles tendon xanthomas. Eur J Clin Invest 2005;35:236-44. DOI |
11 | Duell PB, Salen G, Eichler FS, DeBarber AE, Connor SL, Casaday L, et al. Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. J Clin Lipidol 2018;12:1169-78. DOI |
12 | Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis 2014;9:179. DOI |
13 | Mignarri A, Gallus GN, Dotti MT, Federico A. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. J Inherit Metab Dis 2014;37:421-9. DOI |
14 | Stelten BML, Huidekoper HH, van de Warrenburg BPC, Brilstra EH, Hollak CEM, Haak HR, et al. Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start. Neurology 2019;92:e83-95. DOI |
15 | Sekijima Y, Koyama S, Yoshinaga T, Koinuma M, Inaba Y. Nationwide survey on cerebrotendinous xanthomatosis in Japan. J Hum Genet 2018;63:271-80. DOI |
16 | Wong JC, Walsh K, Hayden D, Eichler FS. Natural history of neurological abnormalities in cerebrotendinous xanthomatosis. J Inherit Metab Dis 2018;41:647-56. DOI |
17 | De Stefano N, Dotti MT, Mortilla M, Federico A. Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain 2001;124(Pt 1):121-31. DOI |