Abstract |
Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare disorder of bile acid synthesis caused by deficiency of the enzyme sterol 27-hydroxylase. It results in deficiency of bile acids and accumulation of abnormal bile alcohols and accelerated cholesterol synthesis. CTX usually presents in the second or third decade with slowly progressive neurological dysfunction, cerebellar ataxia and premature atherosclerosis. Treatment with bile acid supplementation improves but does not completely reverse the neurological signs and symptoms. However, CTX is now known to be associated with a period of neonatal cholestasis. If it is diagnosed at this point, treatment may prevent the onset of neurological problems. We present the case histories and developmental findings in two affected siblings treated from infancy. We plan to continue regular neurodevelopmental reviews.
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Authors | Germaine Pierre, Kenneth Setchell, Jacqueline Blyth, Mary Anne Preece, Anupam Chakrapani, Patrick McKiernan |
Journal | Journal of inherited metabolic disease
(J Inherit Metab Dis)
Vol. 31 Suppl 2
Pg. S241-5
(Dec 2008)
ISSN: 1573-2665 [Electronic] United States |
PMID | 19125350
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Age Factors
- Aging
- Child
- Child Behavior
- Child Development
- Child, Preschool
- Cholestasis
(diagnosis, drug therapy, etiology)
- Cholic Acid
(therapeutic use)
- Developmental Disabilities
(diagnosis, etiology, prevention & control)
- Early Diagnosis
- Female
- Humans
- Infant
- Intelligence Tests
- Male
- Motor Activity
- Neurologic Examination
- Predictive Value of Tests
- Treatment Outcome
- Xanthomatosis, Cerebrotendinous
(complications, diagnosis, drug therapy)
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