Summary
Multiple intradural xanthomatous tumors developed in 48-year-old female with familial phytosterolemia. These tumors were restricted to the spinal denticulate ligaments. Histological and immunohistocheimical findings were fundamentally similar to those of tendinous xanthomas. The major cellular component of these tumors were identified as of mono-histiocytic origin because they possessed myeloid histiocytic antigen (Mac 387), CD11c and lysozyme but not CD15. Sitosterols, campesterols and cholestanols were recovered from the extract of the tumors and the lesions were confirmed to be phytosterolemic xanthomas. Schwann cells stained with anti-S100 protein were confined to the perivascular small nerve bundles and did not show xanthomatous change. Although immunohistochemical preparation of epithelial membrane antigen and desmoplakin I+II revealed the presence of non-neoplastic meningothelial cells in the superficial portion of the tumors, they were too few to play a significant role in the development of these xanthomas.
Similar content being viewed by others
References
Bhattacharyya AK, Conner WE (1974) Beta-sitosterolemia and xanthomatosis: a newly described lipid storage disease in two sisters. J Clin Invest 53:1033–1043
Bjorkem I, Skrede S (1989) Familial diseases with storage of sterols other than cholesterol: cerebrotendinous xanthomatosis and phytosterolemia. In: Scriver CR, Beaudet WS, Valle SD (eds) The metabolic basis of inherited diseases, vol 1, 6th edn. McGraw-Hill, New York, pp 1283–1304
Bloom W, Fawcet DW (1978) Dense connective tissue. In: Text-book of histology, 10th edn. Saunders, Philadelphia, pp 188–189
Enzinger FM, Weiss SW (1989) Benign fibrohistiocytic tumors, Benign tumors of peripheral nerves. In: Enzinger FM, Weiss SW (eds) Soft tissue tumors. 2nd edn. Mosby, St. Luis, pp 223–251, pp 719–780
Erber WN, Mynheer LC, Mason DY (1988) APAAP labelling of blood and bone marrow sampling for phenotyping of leukemia. Lancet i:761–765
Flavel DJ, Jones DB, Wright DH (1987) Identification of tissue histiocytes on paraffin sections by a new monoclonal antibody. J Histochem Cytochem 35:1217–1226
Hatanaka I, Yasuda H, Hidaka H, Harada N, Kobayashi M, Okabe H, Shigeta Y (1990) Spinal cord compression with paraplegia in xanthomatosis due to noromocholesterolemic sitosterolemia. Ann Neurol 28:390–393
Hidaka H, Nakamura T, Aoki H, Kojima H, Nakajima Y, Kosugi K, Hatanaka I, Harada M, Kobayashi M, Tamura A, Fujii T, Shigeta Y (1990) Increased plasma plant sterol levels in heterozygous with sitosterolemia and xanthomatosis. J Lipid Res 31:881–888
Kepes JJ (1979) “Xanthomatous” lesions of the central nervous system: definition, classification and some recent observation. Prog Neuropathol 4:179–213
Kepes JJ (1982) Light-Microscopic Features of Meningiomas. In: Meningiomas: biology, pathology and differential diagnosis. Manson, New York, pp 64–149
Khachadurian AK, Clancy KF (1978) Familial phytosterolemia (beta sitosterolemia): report of five cases and studies in cultured skin fibroblasts. Clin Res 26:329A
Lever WF, Schaumberg-Lever G (1990) Lipidoses histiocytoses in histopathology of the skin. JB Lippincott, Phyladelphia, pp 426–451
Majdic O, Liszka K, Lutz D, Knapp W (1981) Myeloid differentiation antigen defined by monoclonal antibody. Blood 58:1127–1133
Mason DY, Taylor CR (1975) The distribution of muraminidase (lysozyme) in human tissues. J Clin Pathol 28:124–132
Matsuo I, Yoshino K, Ozawa A, Ohokido M (1981) Phytosterolemia and type IIa hyperlipoproteinemia with tuberous xanthomatosis. J Am Acad Dermatol 4:47–49
McArther RG, Roncari DA, Little JA, Kukusis A, Myther JJ, Marat L (1986) Phytosterolemia and hypercholesterolemia in childhood. J Pediatr 108:254–256
Miettinen TA (1980) Phytosterolemia, xanthomatosis and premature atherosclerotic disease: a case with high plant sterol absorption impaired sterol elimination and low cholesterol synthesis. Eur J Clin Invest 10:27–33
Moll R, Cowin P, Krapprel HP, Werner W, Franke WW (1986) Biology of disease — Desmosomal proteins: new marker for identification and classification of tumors. Lab Invest 54:4–25
Nakajima T, Watanabe S, Sato Y, Kameya T, Hirota E, Shimosato Y (1981) An immunoperoxidase study of S100 protein distribution in normal and neoplastic tissues. Am J Surg Pathol 6:715–727
Nakajima T, Watanabe S, Sato Y, Shimosato Y, Motoi M, Lennert K (1982) S100 protein in Langerhans' cells, interdigitating reticulum cells and in histiocytosis. Gann 73:429–432
Russell DS, Rubinstein LJ (1989) Tumours of meninges and related tissues, tumours of the cranial, spinal and peripheral nerve sheaths. In: Pathology of tumours of nervous system, 5th edn. Edward Arnold, London, pp 449–532, pp 533–589
Salen G, Kwiterwitch PO, Shefer S, Tint GS, Horak I, Shore V, Dyal V, Horak E (1985) Increase of plasma cholestanol-5-alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis. J Lipid Res 26:203–209
Salen G, Horak I, Rothkopf M, Cohen JL, Speck J, Tint GS, Shore V, Dayal B, Chen T, Shefer S (1986) Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis. J Lipid Res 26:1126–1133
Schulman RS, Bhattacharrya AK, Conner WE, Friedrickson DS (1974) Beta-sitosterolemia and xanthomatosis. N Engl J Med 294:482–483
Skrede B, Bjorkehem I, Bergesen O, Kayden HJ, Skrede S (1985) The presence of 5-alpha-sitosterol in the serum of a patent with phytosterolemia and its biosynthesis from plant steroids in rats with bile fistula. Biochim Biophys Acta 836:368–375
van Bogaert L (1965) Spinal cholesterolosis. Brain 88:687–696
Wang C, Lin HJ, Chang TK, Salen G, Chan WC, Tse TF (1981) A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. Am J Med 71:313–319
Yamada H, Kurato H, Nomura K, Utsunomiya K, Shimizu M, Isogai Y (1989) Adult xanthogranulomatous intracranial lesion involving familial hypercholesterolemia. Jpn J Med 28:757–761
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Okabe, H., Ishizawa, M., Matsumoto, K. et al. Immunohistochemical analysis of spinal intradural xanthomatosis developed in a patient with phytosterolemia. Acta Neuropathol 83, 554–558 (1992). https://doi.org/10.1007/BF00310036
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00310036