Back to Search
Start Over
Cerebrotendinous xanthomatosis.
- Source :
-
Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 1992; Vol. 94 Suppl, pp. S165-7. - Publication Year :
- 1992
-
Abstract
- Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis. Predominant clinical features are a chronic progressive neurological syndrome, mental deterioration, bilateral cataract and xanthomas. The presence of xanthomas usually leads to the diagnosis, and the reverse is probably also true: without xanthomas the diagnosis will often not be made. CTX may therefore be less rare than commonly thought, and the incidence of xanthomas in CTX may be overestimated. Four cases without xanthomas among the presenting symptoms are described, and the relevance of xanthomas in CTX is discussed.
- Subjects :
- Achilles Tendon pathology
Adult
Brain Diseases, Metabolic diagnosis
Chromosome Aberrations genetics
Chromosome Disorders
Diagnosis, Differential
Female
Genes, Recessive genetics
Humans
Male
Middle Aged
Neurocognitive Disorders diagnosis
Neurocognitive Disorders genetics
Neurologic Examination
Reflex, Stretch genetics
Xanthogranuloma, Juvenile diagnosis
Brain Diseases, Metabolic genetics
Xanthogranuloma, Juvenile genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0303-8467
- Volume :
- 94 Suppl
- Database :
- MEDLINE
- Journal :
- Clinical neurology and neurosurgery
- Publication Type :
- Academic Journal
- Accession number :
- 1320501
- Full Text :
- https://doi.org/10.1016/0303-8467(92)90059-c