MAGNETIC-RESONANCE-IMAGING IN CEREBROTENDINOUS XANTHOMATOSIS - A PROSPECTIVE CLINICAL AND NEURORADIOLOGICAL STUDY

被引：33

作者：

BERGINER, VM

BERGINER, J

KORCZYN, AD

TADMOR, R

机构：

[1] BEN GURION UNIV NEGEV,SOROKA MED CTR,DEPT RADIOL,BEER SHEVA,ISRAEL

[2] BEN GURION UNIV NEGEV,FAC HLTH SCI,BEER SHEVA,ISRAEL

[3] TEL AVIV UNIV,SACKLER SCH MED,ICHILOV MED CTR,DEPT NEUROL,IL-69978 TEL AVIV,ISRAEL

[4] TEL AVIV UNIV,SACKLER SCH MED,SHEBA MED CTR,NEURORADIOL SECT,IL-69978 TEL AVIV,ISRAEL

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1994年 / 122卷 / 01期

关键词：

CEREBROTENDINOUS XANTHOMATOSIS; DIAGNOSIS; MRI; CT;

D O I：

10.1016/0022-510X(94)90059-0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe MRI findings in 13 persons with typical clinical, EEG, CT and biochemical features of cerebrotendinous xanthomatosis (CTX). MRI showed brain (13/13) and cerebellar (12/13) atrophy and diffuse white matter hypodensity (4/13) presumably reflecting sterol infiltration with demyelination. Focal lesions were rare (2/13). Mass effect, edema or enhancement were not observed. Treatment with chenodeoxycholic acid (CDCA) 750 mg/day orally improved neurological and biochemical abnormalities. MRI appears to be of little value in following improvement after treatment has begun. Otherwise, the MRI studies are very sensitive and useful in diagnosing early incomplete forms of CTX.

引用

页码：102 / 108

页数：7

共 27 条

[11] BERGINER VM, 1988, HAREFUAH, V115, P249
[12] CALI JJ, 1991, J BIOL CHEM, V266, P7779
[13] CEREBROTENDINOUS XANTHOMATOSIS - CLINICAL AND MRI STUDY - (A CASE-REPORT)
FIORELLI, M
DIPIERO, V
BASTIANELLO, S
BOZZAO, L
FEDERICO, A
[J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1990, 53 (01) : 76 - 78
[14] CEREBROTENDINOUS XANTHOMATOSIS - CRANIAL CT AND MRI STUDIES IN 8 PATIENTS
HOKEZU, Y
KURIYAMA, M
KUBOTA, R
NAKAGAWA, M
FUJIYAMA, J
OSAME, M
[J]. NEURORADIOLOGY, 1992, 34 (04) : 308 - 312
[15] FRAMESHIFT AND SPLICE-JUNCTION MUTATIONS IN THE STEROL 27-HYDROXYLASE GENE CAUSE CEREBROTENDINOUS XANTHOMATOSIS IN JEWS OF MOROCCAN ORIGIN
LEITERSDORF, E
RESHEF, A
MEINER, V
LEVITZKI, R
SCHWARTZ, SP
DANN, EJ
BERKMAN, N
CALI, JJ
KLAPHOLZ, L
BERGINER, VM
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1993, 91 (06) : 2488 - 2496
[16] CEREBROTENDINOUS XANTHOMATOSIS - STORAGE OF CHOLESTANOL WITHIN NERVOUS SYSTEM
MENKES, JH
SCHIMSCHOCK, JR
SWANSON, PD
[J]. ARCHIVES OF NEUROLOGY, 1968, 19 (01) : 47 - +
[17] MEYDING-LAMADE U K, 1992, Neurology, V42, P286
[18] COMBINED TREATMENT WITH CHENODEOXYCHOLIC ACID AND PRAVASTATIN IMPROVES PLASMA CHOLESTANOL LEVELS ASSOCIATED WITH MARKED REGRESSION OF TENDON XANTHOMAS IN CEREBROTENDINOUS XANTHOMATOSIS
NAKAMURA, T
MATSUZAWA, Y
TAKEMURA, K
KUBO, M
MIKI, H
TARUI, S
[J]. METABOLISM-CLINICAL AND EXPERIMENTAL, 1991, 40 (07): : 741 - 746
[19] CEREBROTENDINOUS XANTHOMATOSIS - A DEFECT IN MITOCHONDRIAL 26-HYDROXYLATION REQUIRED FOR NORMAL BIOSYNTHESIS OF CHOLIC-ACID
OFTEBRO, H
BJORKHEM, I
SKREDE, S
SCHREINER, A
PEDERSEN, JI
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1980, 65 (06) : 1418 - 1430
[20] INCREASED CONCENTRATIONS OF CHOLESTANOL AND APOLIPOPROTEIN-B IN THE CEREBROSPINAL-FLUID OF PATIENTS WITH CEREBROTENDINOUS XANTHOMATOSIS - EFFECT OF CHENODEOXYCHOLIC ACID
SALEN, G
BERGINER, V
SHORE, V
HORAK, I
HORAK, E
TINT, GS
SHEFER, S
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1987, 316 (20) : 1233 - 1238

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