CEREBROTENDINOUS XANTHOMATOSIS: PRESENTED AS NEUROPSYCHIATRIC MANIFESTATION
| Autor: | Prakash Sinha, Rameshwar Nath Chaurasia, Ranvir Singh Yadav, Arun K. Singh, Vijaynath Mishra, Deepika Joshi, Vivek Sharda |
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| Rok vydání: | 2014 |
| Předmět: |
medicine.medical_specialty
Bile acid medicine.drug_class business.industry Cholestanol Osteoporosis medicine.disease Cerebrotendinous Xanthomatosis chemistry.chemical_compound Endocrinology Premature atherosclerosis chemistry Chenodeoxycholic acid Internal medicine CYP27A1 medicine Infantile diarrhea business |
| Zdroj: | Journal of Evolution of Medical and Dental Sciences. 3:11866-11869 |
| ISSN: | 2278-4802 2278-4748 |
| DOI: | 10.14260/jemds/2014/3563 |
| Popis: | INTRODUCTION: Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease first described in 1937 by van Bogaert et al(1) In 1974, Setoguchi et al. made the finding that CTX is linked to a defect in bile acid synthesis.(2) It is caused by mutations in the CYP27A1 gene, which lead to deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in the accumulation of cholestanol in the serum and many affected tissues(3) CTX manifests as tendon xanthomas, juvenile cataracts and seizures multiple progressive neurological symptoms. Systemic manifestations including osteoporosis(4) heart involvement and premature atherosclerosis are often found. Chronic infantile diarrhea due to defective bile acid synthesis, is often the earliest symptoms of CTX.(5) Replacement treatment with chenodeoxycholic acid (CDCA) has been reported to improve clinical symptoms of CTX. |
| Databáze: | OpenAIRE |
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