TY - JOUR
T1 - Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis
AU - Berginer, Vladimir M.
AU - Shany, Shraga
AU - Alkalay, Daphna
AU - Berginer, Julia
AU - Dekel, Samuel
AU - Salen, Gerald
AU - Tint, G. Stephen
AU - Gazit, Dan
N1 - Funding Information:
From Soroku Medical Center and Faculty of Health Sciences, Ben-Gution University of the Neget: Beer-Sheva, Israel: Hebrew University-Hadassah Faculty of Dental Medicine, Jerusalem, Israel; Veterans Affairs Medical Center, East Orange, NJ; and University of Medicine and Dentistry-New Jersey Medical School, Newark, NJ, Submitted August 26, 1991; accepted April 20, 1992. Supported by the Research Service, Veteruns Administration, Washington, DC. and by U.S. Public Health Senice grants no. HL17818 and no. DK18707. Present addresses: I/: M.B., Department of Neurolom, S.S.. Clinical Biochemistry, D.A. and S.D., Department of Orthopedics, and J.B., Department of Roentgenology, Soroka University Hospital, PO Box 151, Beer-Sheva 84101, Israel: G.S. and G.S.T.. Gustroenterology Laboratov, VA Medical Center, East Orange, NJ 07019; D.G., Division of Oral Pathology. Hebrew Vniversiry-Hadassah. Faculty of Dental Medicine, PO Box 1172, Jerusalem, Israel. Address reprint requests to Vladimir M. Berginer, MD, PhD, Department of Neurology, Soroka Univer,sityH ospital, PO Box 151, Beer-Sheva 84101, Israel. Copyright 0 1993 by W B. Saunders Companv 0026.049519314201-0012$03.OOlO
PY - 1993/1/1
Y1 - 1993/1/1
N2 - Significant osteoporosis determined by skeleton radiography and bone densitometry was found in 15 patients with cerebrotendinous xanthomatosis (CTX) whose mean age was 31 ± 11 years. In three CTX patients, bone biopsies confirmed osteoporosis. Nine patients also sustained bone fractures following minimal trauma. Serum 25-hydroxyvitamin D ([25-OHD] 14.6 ± 6.6 ng/mL v [normal] 30.4 ± 8.0 ng/mL; P < .001) and 24,25-dihydroxyvitamin D ([24,25(OH)2D] 1.2 ± 0.4 ng/mL v [normal] 2.7 ± 0.8 ng/mL; P < .001) and 24,25-dihydroxyvitamin D ([24,25(OH)2D] 1.2 ± 0.4 ng/mL v [normal] 2.7 ± 0.8 ng/mL; P < .001) levels were low. Serum concentrations of 1,25(OH)2D, calcium, inorganic phosphorus, alkaline phosphatase, parathyroid hormone, and calcitonin were normal. Patients showed classic manifestations of CTX, including dementia, pyramidal and cerebellar insufficiency, peripheral neuropathy, cataracts, and tendon xanthomas associated with elevated serum cholestanol concentrations. These results demonstrate that extensive osteoporosis and increased risk of bone fractures are components of this inherited disease.
AB - Significant osteoporosis determined by skeleton radiography and bone densitometry was found in 15 patients with cerebrotendinous xanthomatosis (CTX) whose mean age was 31 ± 11 years. In three CTX patients, bone biopsies confirmed osteoporosis. Nine patients also sustained bone fractures following minimal trauma. Serum 25-hydroxyvitamin D ([25-OHD] 14.6 ± 6.6 ng/mL v [normal] 30.4 ± 8.0 ng/mL; P < .001) and 24,25-dihydroxyvitamin D ([24,25(OH)2D] 1.2 ± 0.4 ng/mL v [normal] 2.7 ± 0.8 ng/mL; P < .001) and 24,25-dihydroxyvitamin D ([24,25(OH)2D] 1.2 ± 0.4 ng/mL v [normal] 2.7 ± 0.8 ng/mL; P < .001) levels were low. Serum concentrations of 1,25(OH)2D, calcium, inorganic phosphorus, alkaline phosphatase, parathyroid hormone, and calcitonin were normal. Patients showed classic manifestations of CTX, including dementia, pyramidal and cerebellar insufficiency, peripheral neuropathy, cataracts, and tendon xanthomas associated with elevated serum cholestanol concentrations. These results demonstrate that extensive osteoporosis and increased risk of bone fractures are components of this inherited disease.
UR - http://www.scopus.com/inward/record.url?scp=0027475911&partnerID=8YFLogxK
U2 - 10.1016/0026-0495(93)90174-M
DO - 10.1016/0026-0495(93)90174-M
M3 - Article
AN - SCOPUS:0027475911
SN - 0026-0495
VL - 42
SP - 69
EP - 74
JO - Metabolism: Clinical and Experimental
JF - Metabolism: Clinical and Experimental
IS - 1
ER -