A Case of cerebrotendinous Xanthomatosis Associated with Cerebral Infarction.
- Author:
In Soo JOO
1
;
Phil Za CHO
;
Dong Ik KIM
Author Information
1. Department of Neurology, National Medical Center, Seoul, Korea.
- Publication Type:Case Report
- MeSH:
Achilles Tendon;
Adult;
Atrophy;
Brain;
Brain Stem;
Cataract;
Cerebellar Diseases;
Cerebral Infarction*;
Dementia;
Demyelinating Diseases;
Electroencephalography;
Encephalomalacia;
Humans;
Male;
Neurologic Manifestations;
Paresis;
Tomography, X-Ray Computed;
Xanthomatosis;
Xanthomatosis, Cerebrotendinous*
- From:Journal of the Korean Neurological Association
1988;6(1):91-96
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Cerebrotendinous xanthomatosis-is a very rare, automsomal recessive disorder which characterized by xanthomatous deposits in multiorgan system. The main clinical features include pyramidal, cerebellar and brain stem dysfunction, juvenile cataracts, dementia and xanthomas, especially on Achilles tendon and other tissues. We experienced a patient, 43 year old male who showed cataract, mild cerebellar dysfunction and multiple xanthomas as well as recently developed right hemiparesis. The tendinous xanthomatosis was confirmed pathologically and the brain CT scan showed cortical atrophy, demyelination and multifocal cerebromalacia, which correlated with neurologic manifestation of this patient and with neuropathologic findings of cerebrotendinous xanthomatosis. The EEG showed generalized slowing of background activities.
