DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20150654

A case report on cerebrotendinous xanthomatosis

Mareena John, Raj Nair, Abino Mariya Babu, Shyju Rajendran, Emill Jame David

Abstract


Cerebrotendinous xanthomatosis (CTX) is a rare hereditary neuro-metabolic disease in which deposition of cholesterol and cholestanol occurs in various tissues including CNS. It is characterized by juvenile cataract, tendon xanthomas and progressive neurological defects. It is one of a group of neurologic disorder collectively referred to as leukodystrophy, which predominantly affects the CNS white matter. We are presenting a patient with cerebrotendinous xanthomatosis, who is now 36 years old, and shows the natural course of disease in an untreated patient.  He presented with xanthomas on Achilles tendon, elbow and knees and showed cerebellar and pyramidal signs. He had recurrent seizures and was mentally subnormal.

 


Keywords


Cerebrotendinous xanthomatosis, Tendon xanthoma, Cholestanol lipidosis, Chenodeoxycholic acid

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References


Bajaj BK, Singh A, Anand KS, Garg J. Cerebrotendinous Xanthomatosis: Report of two cases and a novel genetic mutation in an Indian patient. Journal of neurosciences in rural practice-2013; 4(1):87–90.

Genetic home reference. cerebrotendinous xanthomatosis,2015. Available at http://www.ghr.nlm.nih.gov/condition/cerebrotendinous -xanthomatosis

Federico A, Dotti MT, Gallus GN. Cerebrotendinous Xanthomatosis. Gene Reviews 2003, July 16.

Muhammad K, Nandakumar G, Saritha S. Cerebrotendinous Xanthomatosis: need for early diagnosis. Indian journal of dermatol venerol leperol. 2006;72:364-6.

Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet Journal of Rare Diseases. 2014;9:179-90.

Brodsky JW, Beischer AD, FRACS, CaraEast, ElizabethSoltero, CCRC, et al. Crebrotendinous Xanthomatosis: A Rare Cause of Bilateral Achilles tendon Swelling. JBJS. 2006;88(6):1340-4.

Medscape. Cerebrotendinous xanthomatosis. Available at http://www.emedicine.medscape.com/article/1418820.updated may 12 2015.

Ana Claudia Rodrigues de Cerqueira, I Antonio Egıdio Nardi, I Jose Marcelo Ferreira Bezerra. Cerebrotendinousxanthomatosis: a treatable hereditary neuro-metabolic disease. Clinics. 2010;65(11):1217-8.

Barkhof F, Verrips A, Wesseling P, van der Knaap MS, van Engelen BGM, et al. Cerebrotendinous Xanthomatosis: The Spectrum of Imaging Findings and the Correlation with Neuropathologic Findings. Neuroradiology. 2000;217:869–76.

Sandeep P, Jayakrishnan C, Shajit Sadanand, Sreekumar S, NK Thulasidharan. Cerebrotendinous Xanthomatosis: A Treatable Neurodegenerative Disease. JAPI. 2009, October;57:714-5.

Jha S, Khateeb M, Sonker K. Cerebrotendinous xanthomatosis, early diagnosis mandatory: Report of a case from North India. Neurology Asia. 2008;13:125–8.

Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH. Cerebrotendinous Xanthomatosis: A Rare Disease with Diverse Manifestations. JAMA neurology. 2002;59(4):527-9.