Abstract
A 39 year old patient with cerebellar signs, juvenile cataracts, and dull normal intelligence had cerebrotendinous xanthomatosis without tendon xanthomas, diagnosed previously as Marinesco-Sjoegren syndrome. Cerebrotendinous xanthomatosis was proved by a greatly increased excretion of bile alcohols in the patient's urine. Cerebrotendinous xanthomatosis is a sterol storage disorder due to an autosomal recessive inherited defect of sterol 27-hydroxylase characterised by high cholestanol concentration in multiple tissues. If tendon xanthomas are not present, a diagnosis of cerebrotendinous xanthomatosis will often not be made, unless biochemical tests are performed. The clinical features of cerebrotendinous xanthomas strongly resembles Marinesco-Sjoegren syndrome. Marinesco-Sjoegren syndrome is a autosomal recessive disorder characterised by the triad cerebellar ataxia, congenital cataract, and mental retardation. Although a late onset after the first decade of life favours cerebrotendinous xanthomatosis as the underlying disease, a definite distinction between cerebrotendinous xanthomatosis without tendon xanthomas and Marinesco-Sjoegren syndrome based on clinical presentation may be difficult. It is considered that some patients with Marinesco-Sjoegren syndrome reported in the medical literature had cerebrotendinous xanthomatosis without tendon xanthomas. This is of crucial clinical relevance, because, by contrast with Marinesco-Sjoegren syndrome, treatment for cerebrotendinous xanthomatosis is already available.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- ALTER M., TALBERT O. R., CROFFEAD G. Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome. Neurology. 1962 Dec;12:836–847. doi: 10.1212/wnl.12.12.836. [DOI] [PubMed] [Google Scholar]
- Berginer V. M., Berginer J., Korczyn A. D., Tadmor R. Magnetic resonance imaging in cerebrotendinous xanthomatosis: a prospective clinical and neuroradiological study. J Neurol Sci. 1994 Mar;122(1):102–108. doi: 10.1016/0022-510x(94)90059-0. [DOI] [PubMed] [Google Scholar]
- Berginer V. M., Salen G., Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med. 1984 Dec 27;311(26):1649–1652. doi: 10.1056/NEJM198412273112601. [DOI] [PubMed] [Google Scholar]
- Cali J. J., Hsieh C. L., Francke U., Russell D. W. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem. 1991 Apr 25;266(12):7779–7783. [PMC free article] [PubMed] [Google Scholar]
- Hokezu Y., Kuriyama M., Kubota R., Nakagawa M., Fujiyama J., Osame M. Cerebrotendinous xanthomatosis: cranial CT and MRI studies in eight patients. Neuroradiology. 1992;34(4):308–312. doi: 10.1007/BF00588188. [DOI] [PubMed] [Google Scholar]
- Koopman B. J., Wolthers B. G., van der Molen J. C., van der Slik W., Waterreus R. J., van Spreeken A. Cerebrotendinous xanthomatosis: a review of biochemical findings of the patient population in The Netherlands. J Inherit Metab Dis. 1988;11(1):56–75. doi: 10.1007/BF01800057. [DOI] [PubMed] [Google Scholar]
- Meiner V., Meiner Z., Reshef A., Björkhem I., Leitersdorf E. Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease. Neurology. 1994 Feb;44(2):288–290. doi: 10.1212/wnl.44.2.288. [DOI] [PubMed] [Google Scholar]
- Monnet P., Paufique L., Salle B., Rosenberg D., Pasquier N., Picaud S. Syndrome familial du type Marinesco-Sjögren avec quelques variantes. Arch Fr Pediatr. 1969 Jan;26(1):87–95. [PubMed] [Google Scholar]
- Nyberg-Hansen R., Gronvik O. Hereditary cerebellar ataxia associated with congenital cataracts. 4 cases of the Marinesco-Sjögren syndrome with some unusual features. Acta Neurol Scand Suppl. 1972;51:257–260. [PubMed] [Google Scholar]
- Peynet J., Laurent A., De Liege P., Lecoz P., Gambert P., Legrand A., Mikol J., Warnet A. Cerebrotendinous xanthomatosis: treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings. Neurology. 1991 Mar;41(3):434–436. doi: 10.1212/wnl.41.3.434. [DOI] [PubMed] [Google Scholar]
- Tokimura Y., Kuriyama M., Arimura K., Fujiyama J., Osame M. Electrophysiological studies in cerebrotendinous xanthomatosis. J Neurol Neurosurg Psychiatry. 1992 Jan;55(1):52–55. doi: 10.1136/jnnp.55.1.52. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Torbergsen T., Aasly J., Borud O., Lindal S., Mellgren S. I. Mitochondrial myopathy in Marinesco-Sjögren syndrome. J Ment Defic Res. 1991 Apr;35(Pt 2):154–159. doi: 10.1111/j.1365-2788.1991.tb01045.x. [DOI] [PubMed] [Google Scholar]
- Waterreus R. J., Koopman B. J., Wolthers B. G., Oosterhuis H. J. Cerebrotendinous xanthomatosis (CTX): a clinical survey of the patient population in The Netherlands. Clin Neurol Neurosurg. 1987;89(3):169–175. doi: 10.1016/s0303-8467(87)80050-1. [DOI] [PubMed] [Google Scholar]
- Wevers R. A., Cruysberg J. R., Van Heijst A. F., Janssen-Zijlstra F. S., Renier W. O., Van Engelen B. G., Tolboom J. J. Paediatric cerebrotendinous xanthomatosis. J Inherit Metab Dis. 1992;15(3):374–376. doi: 10.1007/BF02435980. [DOI] [PubMed] [Google Scholar]
- Zimmer C., Gosztonyi G., Cervos-Navarro J., von Moers A., Schröder J. M. Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome: fine structural findings in skeletal muscle and conjunctiva. Neuropediatrics. 1992 Dec;23(6):329–335. doi: 10.1055/s-2008-1071368. [DOI] [PubMed] [Google Scholar]