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
PY - 1993/1
Y1 - 1993/1
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
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C2 - 8446051
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 -