Cerebrotendinous Xanthomatosis: Report of two cases and a novel genetic mutation in an Indian patient

Address for correspondence: Dr. Bhupender Kumar Bajaj Department of Neurology, PGIMER and Dr. RML Hospital New Delhi, India India docbajaj@yahoo.co.in

Journal of Neurosciences in Rural Practice

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Abstract

ABSTRACT

Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disorder of bile acid metabolism manifesting typically with the triad of neurological dysfunction, tendon xanthoma, and early onset cataract. The diagnosis is often missed and delayed as the patients do not manifest all the classical features. Early recognition and initiation of chenodeoxycholic acid therapy with Hydoxymethylglutaryl Coenzyme‑A (HMG‑Co‑A) inhibitors is critical to prevent irreversible neurological damage and permanently disabled existence. We report about two patients, both of whom remained undiagnosed for more than 20 years. Genetic analysis in one of the patients revealed a novel genetic mutation in one of the homologous genes. The patient was found to have heterozygous mutation of CTX gene with a novel mutation in exon 1 of CYP27A1 gene.

Keywords

Ataxia

cataract

cerebrotendinous xanthomatosis

cerebellar hyperintensities

genetic mutation

quadriparesis

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Conflict of Interest

None declared

References

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[1] Lorinez M. T., Ranier S, Thomas D, Fink J. K., . Cerebrotendinous xanthomatosis: Possible higher prevalence than previously recognized. Arch Neurol. 2005;62:1459-63.
[Google Scholar]

[2] Rafiq M, Sharrack N, Shaw P. J., Hadjivassilou M, . A neurological rarity not to be missed: Cerbrotendinous xanthomatosis. Pract Neurol. 2011;11:296-300.
[Google Scholar]

[3] Menkes J. H., Schimschok J. R., Swanson P. D., . Cerebrotendinous xanthomatosis: The storage of cholestanol within the nervous system. Arch Neurol. 1968;19:47-53.
[Google Scholar]

[4] Tian Di, Zaiquiang Z, . 2 novel deletions of the sterol 27 hydroxylase gene in a Chinese family with cerebrotendinous xanthomatosis. BMC Neurol. 2011;11:130.
[Google Scholar]

[5] Berginer V. M., Abeliovich D, . Genetics of cerebrotendinous xanthomatosis (CTX): An autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin. Am J Med Genet. 1981;10:151-7.
[Google Scholar]

[6] Chatterjee G, Chakroborty I, Das T. K., Datta C, . Cerebrotendinous xanthomatosis in a family. Indian J Dermatol. 1999;44:153-6.
[Google Scholar]

[7] Mukherjee A. A., Chawla B. P., Rathi S. S., Puthran R. S., . Cerebrotendinous xanthomatosis: A treatable cause of metabolic ataxia. J Assoc Physicians India. 2007;55:655-7.
[Google Scholar]

[8] Srinivas B. J., Patnayak R, Rao I. S., Prayaga A, Khan A. K., Narasimhlu G, . Cerebrotendinous xanthomatosis: A case report. Acta Cytol. 2007;51:654-6.
[Google Scholar]

[9] Bordia S, Saifee A. A., . Cerbrotendinousxanthomatosis with oromandibular dyskinesia. Neurol India. 2003;51:556-8.
[Google Scholar]

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

[11] Kamate M, Chetal V, Hattiholi V, . Cerebrotendinous xanthomatosis. Indian J Pediatr. 2010;77:697-8.
[Google Scholar]

[12] Gaikwad S. B., Garg A, Mishra N. K., Gupta V, Srivastava A, Sarkar C, . Cerebrotendinous xanthomatosis: Neuroimaging findings of two siblings from an Indian family. Neurol India. 2003;51:401-3.
[Google Scholar]

[13] Muhammed K, Nandakumar G, Saritha S, . Cerebrotendinous xanthomatosis: Need for early diagnosis. Indian J Dermatol Venereol Leprol. 2006;72:364-6.
[Google Scholar]

[14] Karandikar A. A., Pushparajan S, Unni M. N., Srinivas R, . Case report: Cerebrotendinous xanthomatosis. Indian J Radiol Imaging. 2009;19:314-7.
[Google Scholar]

[15] Verrips A, Wevers R. A., Baziel G. M., Engelen V, Keyser A, Wolthers B. G., et al . Effect of Simvastatin in addition to Chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis. Metabolism. 1999;48:233-8.
[Google Scholar]