TY - JOUR
T1 - Magnetic resonance imaging in cerebrotendinous xanthomatosis
T2 - A prospective clinical and neuroradiological study
AU - Berginer, V. M.
AU - Berginer, J.
AU - Korczyn, A. D.
AU - Tadmor, R.
PY - 1994/3
Y1 - 1994/3
N2 - 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.
AB - 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.
KW - CT
KW - Cerebrotendinous xanthomatosis
KW - Diagnosis
KW - MRI
UR - http://www.scopus.com/inward/record.url?scp=0028204008&partnerID=8YFLogxK
U2 - 10.1016/0022-510X(94)90059-0
DO - 10.1016/0022-510X(94)90059-0
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
AN - SCOPUS:0028204008
SN - 0022-510X
VL - 122
SP - 102
EP - 108
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
IS - 1
ER -